{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,18]],"date-time":"2026-10-18T03:29:43Z","timestamp":1792294183152,"version":"4.4.0"},"reference-count":1590,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2024,5,23]],"date-time":"2024-05-23T00:00:00Z","timestamp":1716422400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJNS"],"abstract":"<jats:p>Newborn bloodspot screening (NBS) began in the early 1960s based on the work of Dr. Robert \u201cBob\u201d Guthrie in Buffalo, NY, USA. His development of a screening test for phenylketonuria on blood absorbed onto a special filter paper and transported to a remote testing laboratory began it all. Expansion of NBS to large numbers of asymptomatic congenital conditions flourishes in many settings while it has not yet been realized in others. The need for NBS as an efficient and effective public health prevention strategy that contributes to lowered morbidity and mortality wherever it is sustained is well known in the medical field but not necessarily by political policy makers. Acknowledging the value of national NBS reports published in 2007, the authors collaborated to create a worldwide NBS update in 2015. In a continuing attempt to review the progress of NBS globally, and to move towards a more harmonized and equitable screening system, we have updated our 2015 report with information available at the beginning of 2024. Reports on sub-Saharan Africa and the Caribbean, missing in 2015, have been included. Tables popular in the previous report have been updated with an eye towards harmonized comparisons. To emphasize areas needing attention globally, we have used regional tables containing similar listings of conditions screened, numbers of screening laboratories, and time at which specimen collection is recommended. Discussions are limited to bloodspot screening.<\/jats:p>","DOI":"10.3390\/ijns10020038","type":"journal-article","created":{"date-parts":[[2024,5,23]],"date-time":"2024-05-23T05:35:20Z","timestamp":1716442520000},"page":"38","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":164,"title":["Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020\u20132023)"],"prefix":"10.3390","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6272-7350","authenticated-orcid":false,"given":"Bradford L.","family":"Therrell","sequence":"first","affiliation":[{"name":"Department of Pediatrics, University of Texas Health Science Center San Antonio, San Antonio, TX 78229, USA"},{"name":"National Newborn Screening and Global Resource Center, Austin, TX 78759, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5812-1871","authenticated-orcid":false,"given":"Carmencita D.","family":"Padilla","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, College of Medicine, University of the Philippines Manila, Manila 1000, Philippines"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6129-4987","authenticated-orcid":false,"given":"Gustavo J. C.","family":"Borrajo","sequence":"additional","affiliation":[{"name":"Detecci\u00f3n de Errores Cong\u00e9nitos\u2014Fundaci\u00f3n Bioqu\u00edmica Argentina, La Plata 1908, Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4067-1063","authenticated-orcid":false,"given":"Issam","family":"Khneisser","sequence":"additional","affiliation":[{"name":"Jacques LOISELET Genetic and Genomic Medical Center, Faculty of Medicine, Saint Joseph University, Beirut 1104 2020, Lebanon"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5630-7322","authenticated-orcid":false,"given":"Peter C. J. I.","family":"Schielen","sequence":"additional","affiliation":[{"name":"Office of the International Society for Neonatal Screening, Reigerskamp 273, 3607 HP Maarssen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer","family":"Knight-Madden","sequence":"additional","affiliation":[{"name":"Caribbean Institute for Health Research\u2014Sickle Cell Unit, The University of the West Indies, Mona, Kingston 7, Jamaica"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9566-6248","authenticated-orcid":false,"given":"Helen L.","family":"Malherbe","sequence":"additional","affiliation":[{"name":"Centre for Human Metabolomics, North-West University, Potchefstroom 2531, South Africa"},{"name":"Rare Diseases South Africa NPC, The Station Office, Bryanston, Sandton 2021, South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marika","family":"Kase","sequence":"additional","affiliation":[{"name":"Strategic Initiatives Reproductive Health, Revvity, PL10, 10101 Turku, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,5,23]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1016\/0925-6164(92)90025-Z","article-title":"The origin of newborn screening","volume":"1","author":"Guthrie","year":"1992","journal-title":"Screening"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"2075","DOI":"10.2105\/AJPH.54.12.2075","article-title":"Newborn phenylketonuria detection program in Massachusetts","volume":"54","author":"MacCready","year":"1964","journal-title":"Am. J. Public Health Nations Health"},{"key":"ref_3","first-page":"232","article-title":"Delaware\u2019s phenylketonuria early detection and screening program","volume":"35","author":"Alvarez","year":"1963","journal-title":"Del. Med. J."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"863","DOI":"10.1001\/jama.1961.03040470079019","article-title":"Blood screening for phenylketonuria","volume":"178","author":"Guthrie","year":"1961","journal-title":"JAMA\u2014J. Am. Med. Assoc."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1542\/peds.32.3.338","article-title":"A simple phenylalanine method for detecting in large populations of newborns","volume":"32","author":"Guthrie","year":"1963","journal-title":"Pediatrics"},{"key":"ref_6","unstructured":"Time Inc. (1962). New way to detect a dread disease: Phenylketonuria. Life, 52, 45\u201346. Available online: https:\/\/books.google.com\/books?id=l00EAAAAMBAJ&q=Phenylketonuria#v=snippet&q=Phenylketonuria&f=false."},{"key":"ref_7","first-page":"105","article-title":"Case finding in phenylketonuria. II. The Guthrie test","volume":"91","author":"Partington","year":"1964","journal-title":"Can. Med. Assoc. J."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1016\/0925-6164(93)90015-B","article-title":"Twenty-five years\u2019 experience with newborn screening for phenylketonuria (PKU) in Poland","volume":"2","author":"Cabalska","year":"1993","journal-title":"Screening"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1136\/adc.43.228.141","article-title":"Phenylketonuria. Mass screening of newborns in Ireland","volume":"43","author":"Cahalane","year":"1968","journal-title":"Arch. Dis. Child."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"601","DOI":"10.1111\/j.1651-2227.1981.tb05753.x","article-title":"Evaluation of a nation-wide neonatal metabolic screening programme in Sweden 1965\u20131979","volume":"70","author":"Alm","year":"1981","journal-title":"Acta Paediatr. Scand."},{"key":"ref_11","doi-asserted-by":"crossref","unstructured":"Consultant Paediatricians and Medical Officers of Health of the S.E. Scotland Hospital Region (1968). Population screening by Guthrie test for phenylketonuria in South-east Scotland. Br. Med. J., 1, 674\u2013676.","DOI":"10.1136\/bmj.1.5593.674"},{"key":"ref_12","first-page":"212","article-title":"The Guthrie screening test for phenylketonuria: A report on two years participation in the national programme","volume":"69","author":"Becroft","year":"1969","journal-title":"N. Z. Med. J."},{"key":"ref_13","first-page":"156","article-title":"Screening program for early detection of phenylketonuria in the newborn in Israel","volume":"2","author":"Cohen","year":"1966","journal-title":"Isr. J. Med. Sci."},{"key":"ref_14","unstructured":"Centers for Disease Control and Prevention (CDC) (2011). Ten great public health achievements\u2014United States, 2001\u20132010. Morb. Mortal. Wkly. Rep., 60, 619\u2013623. Available online: https:\/\/www.cdc.gov\/mmwr\/preview\/mmwrhtml\/mm6019a5.htm."},{"key":"ref_15","unstructured":"United Nations. Department of Economic and Social Affairs (2023, September 01). Transforming Our World: The 2030 Agenda for Sustainable Development. Available online: https:\/\/sdgs.un.org\/2030agenda."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1053\/j.semperi.2015.03.002","article-title":"Current status of newborn screening worldwide: 2015","volume":"39","author":"Therrell","year":"2015","journal-title":"Semin. Perinatol."},{"key":"ref_17","unstructured":"Wilson, J.M.G., and Jungner, G. (1968). Principles and Practice of Screening for Disease, World Health Organization. Public Health Papers 34."},{"key":"ref_18","unstructured":"Therrell, B.L., and Hannon, W.H. (1990). Guidelines on the Prevention and Control of Phenylketonuria (PKU), World Health Organization, Division of Noncommunicable Diseases and Health Technology, Hereditary Diseases Programme. WHO\/HDP\/PKU\/GL\/90.4."},{"key":"ref_19","unstructured":"Hannon, W.H., and Therrell, B.L. (1991). Guidelines on the Prevention and Control of Congenital Hypothyroidism, World Health Organization, Division of Noncommunicable Diseases and Health Technology, Hereditary Diseases Programme. WHO\/HDP\/CON.HYPO\/GL\/90.4."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"596","DOI":"10.1007\/s10545-007-0680-1","article-title":"Training programmes for developing countries","volume":"30","author":"Solanki","year":"2007","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_21","unstructured":"Therrell, B.L., and David-Padilla, C. (2005). Screening of Newborns for Congenital Hypothyroidism, International Atomic Energy Agency."},{"key":"ref_22","unstructured":"WHO Fifty-Ninth World Health Assembly (2023, September 01). Sickle Cell Anaemia. Report by the Secretariat. Available online: https:\/\/apps.who.int\/gb\/archive\/pdf_files\/WHA59\/A59_9-en.pdf."},{"key":"ref_23","unstructured":"WHO Regional Office for Africa (2023, September 08). Sickle-Cell Disease: A Strategy for the WHO African Region. AFR\/RC60\/8. Available online: https:\/\/apps.who.int\/iris\/handle\/10665\/1682."},{"key":"ref_24","unstructured":"WHO Regional Office for Europe (2020). Screening Programmes: A Short Guide. Increase Effectiveness, Maximize Benefits and Minimize Harm, World Health Organization Regional Office for Europe, UN City. Available online: https:\/\/apps.who.int\/iris\/handle\/10665\/330829."},{"key":"ref_25","unstructured":"(2024, January 10). March of Dimes. International Conference on Birth Defects and Disabilities in the Developing World. Dr. Anshu Banerjee Keynote Address. Available online: https:\/\/www.marchofdimes.org\/our-work\/conference-information."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"430","DOI":"10.1007\/s10545-007-0644-5","article-title":"Neonatal screening in Europe; the situation in 2004","volume":"30","author":"Loeber","year":"2007","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1007\/s10545-007-0690-z","article-title":"Newborn screening in North America","volume":"30","author":"Therrell","year":"2007","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1007\/s10545-007-0666-z","article-title":"Expanded newborn screening in Europe 2007","volume":"30","author":"Bodamer","year":"2007","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"490","DOI":"10.1007\/s10545-007-0687-7","article-title":"Newborn screening in the Asia Pacific region","volume":"30","author":"Padilla","year":"2007","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1007\/s10545-007-0669-9","article-title":"Newborn screening in Latin America at the beginning of the 21st century","volume":"30","author":"Borrajo","year":"2007","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"482","DOI":"10.1007\/s10545-007-0660-5","article-title":"Newborn screening: Experiences in the Middle East and North Africa","volume":"30","author":"Saadallah","year":"2007","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1017\/cjn.2023.34","article-title":"Variability in newborn screening across Canada: Spinal muscular atrophy and beyond","volume":"51","author":"Osman","year":"2024","journal-title":"Can. J. Neurol. Sci."},{"key":"ref_33","unstructured":"U.S. Congress (2023, September 01). Public Law 106-310. Title XXVI\u2014Children\u2019s Health Act of 2000, Available online: https:\/\/www.govinfo.gov\/content\/pkg\/PLAW-106publ310\/html\/PLAW-106publ310.htm."},{"key":"ref_34","unstructured":"Health Resources and Services Administration (2023, September 19). History of the ACHDNC, Available online: https:\/\/www.hrsa.gov\/advisory-committees\/heritable-disorders\/timeline."},{"key":"ref_35","doi-asserted-by":"crossref","unstructured":"Watson, M.S., Lloyd-Puryear, M.A., and Howell, R.R. (2022). The progress and future of US newborn screening. Int. J. Neonatal Screen., 8.","DOI":"10.3390\/ijns8030041"},{"key":"ref_36","unstructured":"American College of Medical Genetics Newborn Screening Expert Group (2006). Newborn screening: Toward a uniform screening panel and system. Genet. Med., 8, 1S\u2013252S."},{"key":"ref_37","unstructured":"Canadian Organization for Rare Disorders (2023, December 26). Follow Up Letter to CORD from the Ministry of Health about Newborn Screening Recommendations. Available online: https:\/\/www.raredisorders.ca\/content\/uploads\/NBS-Stakeholder-Letter-2016-CORD.pdf."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"S308","DOI":"10.1542\/peds.2005-2633J","article-title":"Naming and counting disorders (conditions) included in newborn screening panels","volume":"117","author":"Sweetman","year":"2006","journal-title":"Pediatrics"},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1038\/gim.2013.98","article-title":"Decision-making process for conditions nominated to the recommended uniform screening panel: Statement of the US Department of Health and Human Services Secretary\u2019s Advisory Committee on Heritable Disorders in Newborns and Children","volume":"16","author":"Kemper","year":"2014","journal-title":"Genet. Med."},{"key":"ref_40","unstructured":"Health Resources and Services Administrated (2024, January 10). Previously Nominated Conditions, Available online: https:\/\/www.hrsa.gov\/advisory-committees\/heritable-disorders\/rusp\/previous-nominations.html."},{"key":"ref_41","doi-asserted-by":"crossref","unstructured":"Gattinger, M. (2023). Democratizing Risk Governance, Palgrave Macmillan.","DOI":"10.1007\/978-3-031-24271-7"},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"350","DOI":"10.1002\/bdr2.1653","article-title":"Mandatory newborn screening in the United States: History, current status, and existential challenges","volume":"112","author":"McCandless","year":"2020","journal-title":"Birth Defects Res."},{"key":"ref_43","doi-asserted-by":"crossref","unstructured":"Sontag, M.K., Miller, J.I., McKasson, S., Sheller, R., Edelman, S., Yusuf, C., Singh, S., Sarkar, D., Bocchini, J., and Scott, J. (2020). Newborn screening timeliness quality improvement initiative: Impact of national recommendations and data repository. PLoS ONE, 15.","DOI":"10.1371\/journal.pone.0231050"},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"E8","DOI":"10.1097\/PHH.0000000000000968","article-title":"Systems integration: The next frontier in newborn-screening timeliness","volume":"26","author":"Simon","year":"2020","journal-title":"J. Public Health Manag. Pract."},{"key":"ref_45","doi-asserted-by":"crossref","unstructured":"Kellar-Guenther, Y., McKasson, S., Hale, K., Singh, S., Sontag, M.K., and Ojodu, J. (2020). Implementing statewide newborn screening for new disorders: U.S. program experiences. Int. J. Neonatal Screen., 6.","DOI":"10.3390\/ijns6020035"},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"1271","DOI":"10.1038\/s41436-018-0334-8","article-title":"Foundation of the Newborn Screening Translational Research Network and its tools for research","volume":"21","author":"Brower","year":"2019","journal-title":"Genet. Med."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"867337","DOI":"10.3389\/fgene.2022.867337","article-title":"Population-based screening of newborns: Findings from the NBS expansion study (Part One)","volume":"13","author":"Brower","year":"2022","journal-title":"Front. Genet."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"867354","DOI":"10.3389\/fgene.2022.867354","article-title":"Population-based screening of newborns: Findings from the newborn screening expansion study (Part Two)","volume":"13","author":"Chan","year":"2022","journal-title":"Front. Genet."},{"key":"ref_49","doi-asserted-by":"crossref","unstructured":"Chan, K., Hu, Z., Bush, L.W., Cope, H., Holm, I.A., Kingsmore, S.F., Wilhelm, K., Scharfe, C., and Brower, A. (2023). NBSTRN tools to advance newborn screening research and support newborn screening stakeholders. Int. J. Neonatal Screen., 9.","DOI":"10.20944\/preprints202309.2039.v1"},{"key":"ref_50","doi-asserted-by":"crossref","unstructured":"Brower, A., Chan, K., Hartnett, M., and Taylor, J. (2021). The longitudinal pediatric data resource: Facilitating longitudinal collection of health information to inform clinical care and guide newborn screening efforts. Int. J. Neonatal Screen., 7.","DOI":"10.20944\/preprints202106.0043.v1"},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"859837","DOI":"10.3389\/fgene.2022.859837","article-title":"Using long-term follow-up data to classify genetic variants in newborn screened conditions","volume":"13","author":"Wilhelm","year":"2022","journal-title":"Front. Genet."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"1265","DOI":"10.15585\/mmwr.mm6936a6","article-title":"Infants with congenital disorders identified through newborn screening\u2014United States, 2015\u20132017","volume":"69","author":"Sontag","year":"2020","journal-title":"MMWR Morb. Mortal. Wkly. Rep."},{"key":"ref_53","doi-asserted-by":"crossref","unstructured":"Gaviglio, A., McKasson, S., Singh, S., and Ojodu, J. (2023). Infants with congenital diseases identified through newborn screening-United States, 2018\u20132020. Int. J. Neonatal Screen., 9.","DOI":"10.3390\/ijns9020023"},{"key":"ref_54","doi-asserted-by":"crossref","unstructured":"Singh, S., Ojodu, J., Kemper, A.R., Lam, W.K.K., and Grosse, S.D. (2023). Implementation of newborn screening for conditions in the United States first recommended during 2010\u20132018. Int. J. Neonatal Screen., 9.","DOI":"10.3390\/ijns9020020"},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1007\/s12026-020-09117-9","article-title":"The case for severe combined immunodeficiency (SCID) and T cell lymphopenia newborn screening: Saving lives\u2026one at a time","volume":"68","author":"Quinn","year":"2020","journal-title":"Immunol. Res."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"577853","DOI":"10.3389\/fimmu.2020.577853","article-title":"The landscape of severe combined immunodeficiency newborn screening in the United States in 2020: A review of screening methodologies and targets, communication pathways, and long-term follow-up practices","volume":"11","author":"Sheller","year":"2020","journal-title":"Front. Immunol."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1016\/j.jaci.2020.10.020","article-title":"SCID newborn screening: What we\u2019ve learned","volume":"147","author":"Currier","year":"2021","journal-title":"J. Allergy Clin. Immunol."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1016\/j.iac.2021.07.007","article-title":"Newborn screening for severe combined immunodeficiency","volume":"41","author":"Taki","year":"2021","journal-title":"Immunol. Allergy Clin. N. Am."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1007\/s12016-021-08876-z","article-title":"Newborn screening in the diagnosis of primary immunodeficiency","volume":"63","author":"Kobrynski","year":"2022","journal-title":"Clin. Rev. Allergy Immunol."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1016\/S0140-6736(23)00731-6","article-title":"Measuring the effect of newborn screening on survival after haematopoietic cell transplantation for severe combined immunodeficiency: A 36-year longitudinal study from the Primary Immune Deficiency Treatment Consortium","volume":"402","author":"Thakar","year":"2023","journal-title":"Lancet"},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"723","DOI":"10.1016\/j.jaip.2020.08.008","article-title":"Functional confirmation of DNA repair defect in ataxia telangiectasia (AT) infants identified by newborn screening for severe combined immunodeficiency (NBS SCID)","volume":"9","author":"Barmettler","year":"2021","journal-title":"J. Allergy Clin. Immunol. Pract."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1007\/s12026-022-09297-6","article-title":"In-utero exposure to immunosuppressive medications resulting in abnormal newborn screening for severe combined immunodeficiency: A case series on natural history and management","volume":"70","author":"Carol","year":"2022","journal-title":"Immunol. Res."},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1007\/s10875-019-00739-9","article-title":"Abnormal newborn screening follow-up for severe combined immunodeficiency in an Amish Cohort with cartilage-hair hypoplasia","volume":"40","author":"Scott","year":"2020","journal-title":"J. Clin. Immunol."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1016\/j.clp.2019.09.004","article-title":"Omenn syndrome identified by newborn screening","volume":"47","author":"Tallar","year":"2020","journal-title":"Clin. Perinatol."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1007\/s10875-020-00931-2","article-title":"When screening for severe combined immunodeficiency (SCID) with T cell receptor excision circles is not SCID: A case-based review","volume":"41","author":"Buchbinder","year":"2021","journal-title":"J. Clin. Immunol."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1186\/s13223-021-00617-3","article-title":"Neonatal abstinence syndrome is a potential cause of low TREC copy number","volume":"17","author":"Adatia","year":"2021","journal-title":"Allergy Asthma Clin. Immunol."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"109182","DOI":"10.1016\/j.clim.2022.109182","article-title":"Natural history of infants with non-SCID T cell lymphopenia identified on newborn screen","volume":"245","author":"Kubala","year":"2022","journal-title":"Clin. Immunol."},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"885","DOI":"10.3389\/fimmu.2020.00885","article-title":"Information and emotional support needs of families whose infant was diagnosed with SCID through newborn screening","volume":"11","author":"Raspa","year":"2020","journal-title":"Front. Immunol."},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"11795565231162839","DOI":"10.1177\/11795565231162839","article-title":"Positive newborn screening for severe combined immunodeficiency: What should the pediatrician do?","volume":"17","author":"Mongkonsritragoon","year":"2023","journal-title":"Clin. Med. Insights Pediatr."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1016\/j.jaci.2022.10.022","article-title":"The diagnosis of severe combined immunodeficiency (SCID): The Primary Immune Deficiency Treatment Consortium (PIDTC) 2022 definitions","volume":"151","author":"Dvorak","year":"2023","journal-title":"J. Allergy Clin. Immunol."},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1016\/j.jaci.2022.10.021","article-title":"The diagnosis of severe combined immunodeficiency: Implementation of the PIDTC 2022 definitions","volume":"151","author":"Dvorak","year":"2023","journal-title":"J. Allergy Clin. Immunol."},{"key":"ref_72","doi-asserted-by":"crossref","unstructured":"Gaviglio, A., Lasarev, M., Sheller, R., Singh, S., and Baker, M. (2023). Newborn Screening for Severe Combined Immunodeficiency: Lessons Learned from Screening and Follow-Up of the Preterm Newborn Population. Int. J. Neonatal Screen., 9.","DOI":"10.3390\/ijns9040068"},{"key":"ref_73","doi-asserted-by":"crossref","unstructured":"Sakai-Bizmark, R., Chang, R.R., Martin, G.R., Hom, L.A., Marr, E.H., Ko, J., Goff, D.A., Mena, L.A., von Kohler, C., and Bedel, L.E.M. (2022). Current postlaunch implementation of state mandates of newborn screening for critical congenital heart disease by pulse oximetry in U.S. states and hospitals. Am. J. Perinatol.","DOI":"10.1055\/s-0042-1756327"},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"826","DOI":"10.1093\/milmed\/usz116","article-title":"Newborn screening pulse oximetry to detect critical congenital heart disease: A follow-up survey of current practice at Army, Navy and Air Force Hospitals","volume":"184","author":"Robinson","year":"2019","journal-title":"Mil. Med."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1016\/j.cjca.2016.10.006","article-title":"Canadian Cardiovascular Society\/Canadian Pediatric Cardiology Association Position Statement on Pulse Oximetry Screening in Newborns to enhance detection of critical congenital heart disease","volume":"33","author":"Wong","year":"2017","journal-title":"Can. J. Cardiol."},{"key":"ref_76","doi-asserted-by":"crossref","unstructured":"Keutzer, J.M. (2020). Establishing Pompe disease newborn screening: The role of industry. Int. J. Neonatal Screen., 6.","DOI":"10.3390\/ijns6030055"},{"key":"ref_77","doi-asserted-by":"crossref","unstructured":"Ames, E.G., Fisher, R., Kleyn, M., and Ahmad, A. (2020). Current practices for U.S. newborn screening of Pompe disease and MPSI. Int. J. Neonatal Screen., 6.","DOI":"10.3390\/ijns6030072"},{"key":"ref_78","doi-asserted-by":"crossref","unstructured":"Hale, K., Kellar-Guenther, Y., McKasson, S., Singh, S., and Ojodu, J. (2020). Expanding newborn screening for Pompe Disease in the United States: The NewSTEPs New Disorders Implementation Project, a resource for new disorder implementation. Int. J. Neonatal Screen., 6.","DOI":"10.3390\/ijns6020048"},{"key":"ref_79","doi-asserted-by":"crossref","unstructured":"Sanders, K.A., Gavrilov, D.K., Oglesbee, D., Raymond, K.M., Tortorelli, S., Hopwood, J.J., Lorey, F., Majumdar, R., Kroll, C.A., and McDonald, A.M. (2020). A Comparative effectiveness study of newborn screening methods for four lysosomal storage disorders. Int. J. Neonatal Screen., 6.","DOI":"10.3390\/ijns6020044"},{"key":"ref_80","doi-asserted-by":"crossref","unstructured":"Smith, L.D., Bainbridge, M.N., Parad, R.B., and Bhattacharjee, A. (2020). Second tier molecular genetic testing in newborn screening for Pompe disease: Landscape and challenges. Int. J. Neonatal Screen., 6.","DOI":"10.3390\/ijns6020032"},{"key":"ref_81","doi-asserted-by":"crossref","unstructured":"Washburn, J., and Millington, D.S. (2020). Digital microfluidics in newborn screening for mucopolysaccharidoses: A progress report. Int. J. Neonatal Screen., 6.","DOI":"10.3390\/ijns6040078"},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"136080","DOI":"10.1016\/j.neulet.2021.136080","article-title":"The future of newborn screening for lysosomal disorders","volume":"760","author":"Wasserstein","year":"2021","journal-title":"Neurosci. Lett."},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"758","DOI":"10.1038\/s41436-020-01038-0","article-title":"Health and economic outcomes of newborn screening for infantile-onset Pompe disease","volume":"23","author":"Richardson","year":"2021","journal-title":"Genet. Med."},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"1404","DOI":"10.1002\/jgc4.1615","article-title":"Newborn screening for Pompe disease: Parental experiences and follow-up care for a late-onset diagnosis","volume":"31","author":"Prakash","year":"2022","journal-title":"J. Genet. Couns."},{"key":"ref_85","doi-asserted-by":"crossref","unstructured":"Jalal, K., Carter, R.L., Barczykowski, A., Tomatsu, S., and Langan, T.J. (2022). A roadmap for potential improvement of newborn screening for inherited metabolic diseases following recent developments and successful applications of bivariate normal limits for pre-symptomatic detection of MPS I, Pompe disease, and Krabbe disease. Int. J. Neonatal Screen., 8.","DOI":"10.3390\/ijns8040061"},{"key":"ref_86","doi-asserted-by":"crossref","unstructured":"Herbst, Z.M., Urdaneta, L., Klein, T., Burton, B.K., Basheeruddin, K., Liao, H.C., Fuller, M., and Gelb, M.H. (2022). Evaluation of two methods for quantification of glycosaminoglycan biomarkers in newborn dried blood spots from patients with severe and attenuated mucopolysaccharidosis type II. Int. J. Neonatal Screen., 8.","DOI":"10.3390\/ijns8010009"},{"key":"ref_87","doi-asserted-by":"crossref","unstructured":"Millington, D.S., and Ficicioglu, C. (2022). Addition of MPS-II to the Recommended Uniform Screening Panel in the United States. Int. J. Neonatal Screen., 8.","DOI":"10.3390\/ijns8040055"},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"100330","DOI":"10.1016\/j.gim.2022.10.012","article-title":"Evidence and recommendation for mucopolysaccharidosis type II newborn screening in the United States","volume":"25","author":"Ream","year":"2023","journal-title":"Genet. Med."},{"key":"ref_89","doi-asserted-by":"crossref","unstructured":"Dorley, M.C., Dizikes, G.J., Pickens, C.A., Cuthbert, C., Basheeruddin, K., Gulamali-Majid, F., Hetterich, P., Hietala, A., Kelsey, A., and Klug, T. (2023). Harmonization of newborn screening results for Pompe disease and mucopolysaccharidosis Type I. Int. J. Neonatal Screen., 9.","DOI":"10.3390\/ijns9010011"},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1002\/jdn.10003","article-title":"X-linked adrenoleukodystrophy: Pathology, pathophysiology, diagnostic testing, newborn screening and therapies","volume":"80","author":"Turk","year":"2020","journal-title":"Int. J. Dev. Neurosci."},{"key":"ref_91","doi-asserted-by":"crossref","first-page":"728","DOI":"10.1002\/jimd.12356","article-title":"MRI surveillance of boys with X-linked adrenoleukodystrophy identified by newborn screening: Meta-analysis and consensus guidelines","volume":"44","author":"Mallack","year":"2021","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_92","doi-asserted-by":"crossref","unstructured":"Moser, A.B., Seeger, E., and Raymond, G.V. (2022). Newborn screening for X-linked adrenoleukodystrophy: Past, present, and future. Int. J. Neonatal Screen., 8.","DOI":"10.3390\/ijns8010016"},{"key":"ref_93","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1002\/jimd.12581","article-title":"Neurocognitive and mental health impact of adrenoleukodystrophy across the lifespan: Insights for the","volume":"46","author":"Pierpont","year":"2023","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_94","doi-asserted-by":"crossref","first-page":"e1306","DOI":"10.1210\/clinem\/dgad286","article-title":"Early detection of adrenal insufficiency: The impact of newborn screening for adrenoleukodystrophy","volume":"108","author":"Grant","year":"2023","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_95","doi-asserted-by":"crossref","first-page":"e53","DOI":"10.1016\/j.pedn.2023.06.005","article-title":"The impacts of adrenoleukodystrophy newborn screening on the evaluation of adrenal dysfunction in male children: An integrative literature review","volume":"72","author":"Pitts","year":"2023","journal-title":"J. Pediatr. Nurs."},{"key":"ref_96","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1016\/j.jpeds.2020.07.033","article-title":"Cost-Effectiveness of nusinersen and universal newborn screening for spinal muscular atrophy","volume":"227","author":"Jalali","year":"2020","journal-title":"J. Pediatr."},{"key":"ref_97","doi-asserted-by":"crossref","unstructured":"Hale, K., Ojodu, J., and Singh, S. (2021). Landscape of spinal muscular atrophy newborn screening in the United States: 2018\u20132021. Int. J. Neonatal Screen., 7.","DOI":"10.3390\/ijns7030033"},{"key":"ref_98","doi-asserted-by":"crossref","first-page":"e2023062100","DOI":"10.1542\/peds.2023-062100","article-title":"Evidence and recommendation for guanidinoacetate methyltransferase deficiency newborn screening","volume":"152","author":"Ream","year":"2023","journal-title":"Pediatrics"},{"key":"ref_99","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1016\/j.ymgme.2021.07.012","article-title":"Prospective identification by neonatal screening of patients with guanidinoacetate methyltransferase deficiency","volume":"134","author":"Hart","year":"2021","journal-title":"Mol. Genet. Metab."},{"key":"ref_100","doi-asserted-by":"crossref","first-page":"e2021053175","DOI":"10.1542\/peds.2021-053175","article-title":"Making decisions about Krabbe disease newborn screening","volume":"149","author":"Kanungo","year":"2022","journal-title":"Pediatrics"},{"key":"ref_101","doi-asserted-by":"crossref","first-page":"e2022057888","DOI":"10.1542\/peds.2022-057888A","article-title":"Making decisions about Krabbe disease newborn screening","volume":"150","author":"Kurtzberg","year":"2022","journal-title":"Pediatrics"},{"key":"ref_102","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1002\/ajmg.c.31994","article-title":"Why must the debate continue on Krabbe disease newborn screening?","volume":"190","year":"2022","journal-title":"Am. J. Med. Genet. C Semin. Med. Genet."},{"key":"ref_103","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1016\/j.pediatrneurol.2023.11.009","article-title":"Newborn screening for Krabbe Disease and identification of minority patients","volume":"151","author":"Bonkowsky","year":"2024","journal-title":"Pediatr. Neurol."},{"key":"ref_104","doi-asserted-by":"crossref","unstructured":"Travert, G., Heeley, M., and Heeley, A. (2020). History of newborn screening for cystic fibrosis-the early years. Int. J. Neonatal Screen., 6.","DOI":"10.3390\/ijns6010008"},{"key":"ref_105","doi-asserted-by":"crossref","unstructured":"Scotet, V., Gutierrez, H., and Farrell, P.M. (2020). Newborn screening for CF across the globe-where is it worthwhile?. Int. J. Neonatal Screen., 6.","DOI":"10.3390\/ijns6010018"},{"key":"ref_106","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1016\/j.jpeds.2020.03.042","article-title":"Vulnerable Child Syndrome and newborn screening carrier results for cystic fibrosis or sickle cell","volume":"224","author":"Farrell","year":"2020","journal-title":"J. Pediatr."},{"key":"ref_107","doi-asserted-by":"crossref","first-page":"3758","DOI":"10.1002\/ppul.25658","article-title":"Outcomes of infants born during the first 9 years of CF newborn screening in the United States: A retrospective Cystic Fibrosis Foundation Patient Registry cohort study","volume":"56","author":"Martiniano","year":"2021","journal-title":"Pediatr. Pulmonol."},{"key":"ref_108","doi-asserted-by":"crossref","first-page":"e2021051740","DOI":"10.1542\/peds.2021-051740","article-title":"Outcomes of cystic fibrosis screening-positive infants with inconclusive diagnosis at school age","volume":"148","author":"Gonska","year":"2021","journal-title":"Pediatrics"},{"key":"ref_109","doi-asserted-by":"crossref","unstructured":"Kharrazi, M., Sacramento, C., Comeau, A.M., Hale, J.E., Caggana, M., Kay, D.M., Lee, R., Reilly, B., Thompson, J.D., and Nasr, S.Z. (2022). Missed cystic fibrosis newborn screening cases due to immunoreactive trypsinogen levels below program cutoffs: A national survey of risk factors. Int. J. Neonatal Screen., 8.","DOI":"10.3390\/ijns8040058"},{"key":"ref_110","doi-asserted-by":"crossref","unstructured":"Sontag, M.K., Miller, J.I., McKasson, S., Gaviglio, A., Martiniano, S.L., West, R., Vazquez, M., Ren, C.L., Farrell, P.M., and McColley, S.A. (2022). Newborn screening for cystic fibrosis: A qualitative study of successes and challenges from universal screening in the United States. Int. J. Neonatal Screen., 8.","DOI":"10.3390\/ijns8030038"},{"key":"ref_111","doi-asserted-by":"crossref","first-page":"990","DOI":"10.1001\/jamapediatrics.2022.2674","article-title":"Real-world associations of US cystic fibrosis newborn screening programs with nutritional and pulmonary outcomes","volume":"176","author":"Rosenfeld","year":"2022","journal-title":"JAMA Pediatr."},{"key":"ref_112","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1002\/ppul.26209","article-title":"Detection of disease-causing CFTR variants in state newborn screening programs","volume":"58","author":"McGarry","year":"2023","journal-title":"Pediatr. Pulmonol."},{"key":"ref_113","doi-asserted-by":"crossref","first-page":"927","DOI":"10.1002\/ppul.26279","article-title":"Variation in cystic fibrosis newborn screening algorithms in the United States","volume":"58","author":"Rehani","year":"2023","journal-title":"Pediatr. Pulmonol."},{"key":"ref_114","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1016\/j.jcf.2022.07.010","article-title":"Disparities in first evaluation of infants with cystic fibrosis since implementation of newborn screening","volume":"22","author":"McColley","year":"2023","journal-title":"J. Cyst. Fibros."},{"key":"ref_115","doi-asserted-by":"crossref","first-page":"107679","DOI":"10.1016\/j.ymgme.2023.107679","article-title":"Why cystic fibrosis newborn screening programs have failed to meet original expectations\u2026 thus far","volume":"140","author":"Farrell","year":"2023","journal-title":"Mol. Genet. Metab."},{"key":"ref_116","doi-asserted-by":"crossref","first-page":"1104","DOI":"10.1002\/jimd.12669","article-title":"Maleic acid is a biomarker for maleylacetoacetate isomerase deficiency; implications for newborn screening of tyrosinemia type 1","volume":"46","author":"Dijkstra","year":"2023","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_117","doi-asserted-by":"crossref","first-page":"1269","DOI":"10.15585\/mmwr.mm6936a7","article-title":"Newborn screening practices and alpha-thalassemia detection\u2014United States, 2016","volume":"69","author":"Bender","year":"2020","journal-title":"MMWR Morb. Mortal. Wkly. Rep."},{"key":"ref_118","doi-asserted-by":"crossref","unstructured":"Bender, M.A., Hulihan, M., Dorley, M.C., Aguinaga, M.D.P., Ojodu, J., and Yusuf, C. (2021). Newborn screening practices for beta-thalassemia in the United States. Int. J. Neonatal Screen., 7.","DOI":"10.3390\/ijns7040083"},{"key":"ref_119","doi-asserted-by":"crossref","unstructured":"Khangura, S.D., Potter, B.K., Davies, C., Ducharme, R., Bota, A.B., Hawken, S., Wilson, K., Karaceper, M.D., Klaassen, R.J., and Little, J. (2021). Health services use by children identified as heterozygous hemoglobinopathy mutation carriers via newborn screening. BMC Pediatr., 21.","DOI":"10.1186\/s12887-021-02751-8"},{"key":"ref_120","doi-asserted-by":"crossref","first-page":"e2021053454","DOI":"10.1542\/peds.2021-053454","article-title":"Parents\u2019 experiences and needs regarding infant sickle cell trait results","volume":"149","author":"Sims","year":"2022","journal-title":"Pediatrics"},{"key":"ref_121","doi-asserted-by":"crossref","first-page":"e046240","DOI":"10.1136\/bmjopen-2020-046240","article-title":"Cross-sectional prospective feasibility study of newborn screening for sickle cell anaemia and congenital hypothyroidism in Guyana","volume":"12","author":"Alladin","year":"2022","journal-title":"BMJ Open"},{"key":"ref_122","doi-asserted-by":"crossref","first-page":"113732","DOI":"10.1016\/j.jpeds.2023.113732","article-title":"Worldwide newborn screening and early immunizations: Aligning advances in preventive pediatrics","volume":"264","author":"Grob","year":"2024","journal-title":"J. Pediatr."},{"key":"ref_123","doi-asserted-by":"crossref","unstructured":"Edelman, S., Desai, H., Pigg, T., Yusuf, C., and Ojodu, J. (2020). Landscape of congenital adrenal hyperplasia newborn screening in the United States. Int. J. Neonatal Screen., 6.","DOI":"10.3390\/ijns6030064"},{"key":"ref_124","doi-asserted-by":"crossref","unstructured":"Speiser, P.W., Chawla, R., Chen, M., Diaz-Thomas, A., Finlayson, C., Rutter, M.M., Sandberg, D.E., Shimy, K., Talib, R., and Cerise, J. (2020). Newborn screening protocols and positive predictive value for congenital adrenal hyperplasia vary across the United States. Int. J. Neonatal Screen., 6.","DOI":"10.3390\/ijns6020037"},{"key":"ref_125","doi-asserted-by":"crossref","unstructured":"Held, P.K., Bird, I.M., and Heather, N.L. (2020). Newborn screening for congenital adrenal hyperplasia: Review of factors affecting screening accuracy. Int. J. Neonatal Screen., 6.","DOI":"10.3390\/ijns6030067"},{"key":"ref_126","doi-asserted-by":"crossref","unstructured":"Grosse, S.D., and Van Vliet, G. (2020). Challenges in assessing the cost-effectiveness of newborn screening: The example of congenital adrenal hyperplasia. Int. J. Neonatal Screen., 6.","DOI":"10.3390\/ijns6040082"},{"key":"ref_127","first-page":"528","article-title":"Newborn screening for congenital hypothyroidism and congenital adrenal hyperplasia: Benefits and costs of a successful public health program","volume":"37","author":"Grosse","year":"2021","journal-title":"Med. Sci."},{"key":"ref_128","doi-asserted-by":"crossref","first-page":"113417","DOI":"10.1016\/j.jpeds.2023.113417","article-title":"Newborn screening for congenital hypothyroidism and phenylketonuria-Beyond cost savings","volume":"258","author":"Grosse","year":"2023","journal-title":"J. Pediatr."},{"key":"ref_129","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1016\/j.jpeds.2022.10.046","article-title":"Cost-Effectiveness of newborn screening for phenylketonuria and congenital hypothyroidism","volume":"256","author":"Appelberg","year":"2023","journal-title":"J. Pediatr."},{"key":"ref_130","doi-asserted-by":"crossref","first-page":"e2022060420","DOI":"10.1542\/peds.2022-060420","article-title":"Congenital hypothyroidism: Screening and management","volume":"151","author":"Rose","year":"2023","journal-title":"Pediatrics"},{"key":"ref_131","doi-asserted-by":"crossref","first-page":"e1374","DOI":"10.1210\/clinem\/dgab890","article-title":"Neonatal screening for hyperthyroidism proof of concept","volume":"107","author":"Kariyawasam","year":"2022","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_132","doi-asserted-by":"crossref","first-page":"e2630","DOI":"10.1210\/clinem\/dgac124","article-title":"Population-based TSH screening of newborns for hyperthyroidism: It may be feasible, but is it justified?","volume":"107","author":"Manousaki","year":"2022","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_133","doi-asserted-by":"crossref","first-page":"e3536","DOI":"10.1210\/clinem\/dgac284","article-title":"Letter to the editor from Banig\u00e9 and Polak: \u201cPopulation-based TSH screening of newborns for hyperthyroidism: It may be feasible, but is it justified?","volume":"107","author":"Polak","year":"2022","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_134","doi-asserted-by":"crossref","unstructured":"Peck, D.S., Lacey, J.M., White, A.L., Pino, G., Studinski, A.L., Fisher, R., Ahmad, A., Spencer, L., Viall, S., and Shallow, N. (2020). Incorporation of second-tier biomarker testing improves the specificity of newborn screening for mucopolysaccharidosis type I. Int. J. Neonatal Screen., 6.","DOI":"10.3390\/ijns6010010"},{"key":"ref_135","doi-asserted-by":"crossref","first-page":"1262","DOI":"10.1038\/s41436-020-0790-9","article-title":"A highly multiplexed biochemical assay for analytes in dried blood spots: Application to newborn screening and diagnosis of lysosomal storage disorders and other inborn errors of metabolism","volume":"22","author":"Hong","year":"2020","journal-title":"Genet. Med."},{"key":"ref_136","doi-asserted-by":"crossref","first-page":"11721","DOI":"10.1021\/acs.analchem.0c01750","article-title":"Tandem mass spectrometry enzyme assays for multiplex detection of 10-mucopolysaccharidoses in dried blood spots and fibroblasts","volume":"92","author":"Khaledi","year":"2020","journal-title":"Anal. Chem."},{"key":"ref_137","doi-asserted-by":"crossref","first-page":"107698","DOI":"10.1016\/j.ymgme.2023.107698","article-title":"Newborn screening for the full set of mucopolysaccharidoses in dried blood spots based on first-tier enzymatic assay followed by second-tier analysis of glycosaminoglycans","volume":"140","author":"Herbst","year":"2023","journal-title":"Mol. Genet. Metab."},{"key":"ref_138","doi-asserted-by":"crossref","unstructured":"Singh, R., Chopra, S., Graham, C., Langer, M., Ng, R., Ullal, A.J., and Pamula, V.K. (2020). Emerging approaches for fluorescence-based newborn screening of mucopolysaccharidoses. Diagnostics., 10.","DOI":"10.3390\/diagnostics10050294"},{"key":"ref_139","doi-asserted-by":"crossref","unstructured":"Parad, R.B., Sheldon, Y., and Bhattacharjee, A. (2021). Implementation of hospital-based supplemental duchenne muscular dystrophy newborn screening (sDMDNBS): A pathway to broadening adoption. Int. J. Neonatal Screen., 7.","DOI":"10.3390\/ijns7040077"},{"key":"ref_140","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1002\/ajmg.c.32000","article-title":"Newborn screening for Duchenne muscular dystrophy-early detection and diagnostic algorithm for female carriers of Duchenne muscular dystrophy","volume":"190","author":"Gruber","year":"2022","journal-title":"Am. J. Med. Genet. C Semin. Med. Genet."},{"key":"ref_141","doi-asserted-by":"crossref","unstructured":"Maloney, B., Park, S., Sowizral, M., Brackett, I., Moslehi, R., Chung, W.K., Gruber, D., Brower, A., Lloyd-Puryear, M., and Caggana, M. (2023). Factors influencing creatine kinase-MM concentrations in newborns and implications for newborn screening for Duchenne muscular dystrophy. Clin. Biochem., 118.","DOI":"10.1016\/j.clinbiochem.2023.110614"},{"key":"ref_142","doi-asserted-by":"crossref","unstructured":"Dantonio, P., Tavakoli, N.P., Migliore, B., McCown, E., Lim, T., Park, S., Caggana, M., Kucera, K.S., Phan, H., and Street, N. (2023). Multi-laboratory evaluation of prototype dried blood spot quality control materials for creatine kinase-MM newborn screening assays. Int. J. Neonatal Screen., 9.","DOI":"10.3390\/ijns9010013"},{"key":"ref_143","doi-asserted-by":"crossref","unstructured":"Gelb, M.H., Basheeruddin, K., Burlina, A., Chen, H.J., Chien, Y.H., Dizikes, G., Dorley, C., Giugliani, R., Hietala, A., and Hong, X. (2022). Liquid chromatography-tandem mass spectrometry in newborn screening laboratories. Int. J. Neonatal Screen., 8.","DOI":"10.3390\/ijns8040062"},{"key":"ref_144","doi-asserted-by":"crossref","first-page":"6341","DOI":"10.1021\/acs.analchem.9b05274","article-title":"Leukocyte and dried blood spot arylsulfatase A assay by tandem mass spectrometry","volume":"92","author":"Hong","year":"2020","journal-title":"Anal. Chem."},{"key":"ref_145","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1038\/s41436-020-01017-5","article-title":"Toward newborn screening of metachromatic leukodystrophy: Results from analysis of over 27,000 newborn dried blood spots","volume":"23","author":"Hong","year":"2021","journal-title":"Genet. Med."},{"key":"ref_146","doi-asserted-by":"crossref","first-page":"101037","DOI":"10.1016\/j.ymgmr.2023.101037","article-title":"ScreenPlus: A comprehensive, multi-disorder newborn screening program","volume":"38","author":"Kelly","year":"2024","journal-title":"Mol. Genet. Metab. Rep."},{"key":"ref_147","doi-asserted-by":"crossref","first-page":"264","DOI":"10.1002\/jimd.12269","article-title":"Detection of GM1-gangliosidosis in newborn dried blood spots by enzyme activity and biomarker assays using tandem mass spectrometry","volume":"44","author":"Su","year":"2021","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_148","doi-asserted-by":"crossref","first-page":"1606","DOI":"10.1038\/s41436-020-0846-x","article-title":"Toward newborn screening of cerebrotendinous xanthomatosis: Results of a biomarker research study using 32,000 newborn dried blood spots","volume":"22","author":"Hong","year":"2020","journal-title":"Genet. Med."},{"key":"ref_149","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1016\/j.ymgme.2021.06.007","article-title":"Prospective diagnosis of MT-ATP6-related mitochondrial disease by newborn screening","volume":"134","author":"Peretz","year":"2021","journal-title":"Mol. Genet. Metab."},{"key":"ref_150","doi-asserted-by":"crossref","first-page":"100625","DOI":"10.1016\/j.ymgmr.2020.100625","article-title":"Targeted next generation sequencing for newborn screening of Menkes disease","volume":"24","author":"Parad","year":"2020","journal-title":"Mol. Genet. Metab. Rep."},{"key":"ref_151","doi-asserted-by":"crossref","first-page":"639479","DOI":"10.3389\/fped.2021.639479","article-title":"The prenatal origin of childhood leukemia: Potential applications for epidemiology and newborn screening","volume":"9","author":"Marcotte","year":"2021","journal-title":"Front. Pediatr."},{"key":"ref_152","first-page":"e24446","article-title":"A custom-made newborn screening test for Wilson\u2019s disease in Puerto Rico","volume":"14","year":"2022","journal-title":"Cureus"},{"key":"ref_153","doi-asserted-by":"crossref","unstructured":"Gavrilov, D.K., Piazza, A.L., Pino, G., Turgeon, C., Matern, D., Oglesbee, D., Raymond, K., Tortorelli, S., and Rinaldo, P. (2020). The combined impact of CLIR post-analytical tools and second tier testing on the performance of newborn screening for disorders of propionate, methionine, and cobalamin metabolism. Int. J. Neonatal Screen., 6.","DOI":"10.3390\/ijns6020033"},{"key":"ref_154","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1002\/jmd2.12075","article-title":"Longitudinal metabolomics in dried bloodspots yields profiles informing newborn screening for succinic semialdehyde dehydrogenase deficiency","volume":"53","author":"Brown","year":"2020","journal-title":"JIMD Rep."},{"key":"ref_155","doi-asserted-by":"crossref","unstructured":"Rowe, A.D., Stoway, S.D., \u00c5hlman, H., Arora, V., Caggana, M., Fornari, A., Hagar, A., Hall, P.L., Marquardt, G.C., and Miller, B.J. (2021). A novel approach to improve newborn screening for congenital hypothyroidism by integrating covariate-adjusted results of different tests into CLIR customized interpretive tools. Int. J. Neonatal Screen., 7.","DOI":"10.3390\/ijns7020023"},{"key":"ref_156","doi-asserted-by":"crossref","first-page":"1159","DOI":"10.1002\/jimd.12682","article-title":"A new test method for biochemical analysis of plasmalogens in dried blood spots and erythrocytes from patients with peroxisomal disorders","volume":"46","author":"Wegwerth","year":"2023","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_157","doi-asserted-by":"crossref","first-page":"104651","DOI":"10.1016\/j.amsu.2022.104651","article-title":"Utilizing augmented artificial intelligence for aminoacidopathies using collaborative laboratory integrated reporting\u2014A cross-sectional study","volume":"82","author":"Khan","year":"2022","journal-title":"Ann. Med. Surg."},{"key":"ref_158","doi-asserted-by":"crossref","unstructured":"Peng, G., Zhang, Y., Zhao, H., and Scharfe, C. (2022). dbRUSP: An Interactive database to investigate inborn metabolic differences for improved genetic disease screening. Int. J. Neonatal Screen., 8.","DOI":"10.3390\/ijns8030048"},{"key":"ref_159","doi-asserted-by":"crossref","first-page":"300","DOI":"10.1097\/MOP.0000000000000875","article-title":"Metabolomics and adductomics of newborn bloodspots to retrospectively assess the early-life exposome","volume":"32","author":"Petrick","year":"2020","journal-title":"Curr. Opin. Pediatr."},{"key":"ref_160","doi-asserted-by":"crossref","first-page":"1723","DOI":"10.1038\/s41436-020-0858-6","article-title":"The limited use of US residual newborn screening dried bloodspots for health disparity research","volume":"22","author":"Riches","year":"2020","journal-title":"Genet. Med."},{"key":"ref_161","doi-asserted-by":"crossref","first-page":"934","DOI":"10.1002\/jimd.12236","article-title":"Ethnic variability in newborn metabolic screening markers associated with false-positive outcomes","volume":"43","author":"Peng","year":"2020","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_162","doi-asserted-by":"crossref","first-page":"623184","DOI":"10.3389\/fped.2020.623184","article-title":"Timing of newborn blood collection alters metabolic disease screening performance","volume":"8","author":"Peng","year":"2021","journal-title":"Front. Pediatr."},{"key":"ref_163","doi-asserted-by":"crossref","first-page":"03078","DOI":"10.7189\/jogh.11.03078","article-title":"A novel way of determining gestational age upon the birth of a child","volume":"11","author":"Wilson","year":"2021","journal-title":"J. Glob. Health"},{"key":"ref_164","doi-asserted-by":"crossref","first-page":"150","DOI":"10.12688\/gatesopenres.13155.2","article-title":"Metabolic gestational age assessment in low resource settings: A validation protocol","volume":"4","author":"Bota","year":"2021","journal-title":"Gates Open Res."},{"key":"ref_165","doi-asserted-by":"crossref","first-page":"03027","DOI":"10.7189\/jogh.12.03027","article-title":"Unlocking the global health potential of dried blood spot cards","volume":"12","author":"Bota","year":"2022","journal-title":"J. Glob. Health"},{"key":"ref_166","doi-asserted-by":"crossref","unstructured":"Hawken, S., Ducharme, R., Murphy, M.S.Q., Olibris, B., Bota, A.B., Wilson, L.A., Cheng, W., Little, J., Potter, B.K., and Denize, K.M. (2023). Development and external validation of machine learning algorithms for postnatal gestational age estimation using clinical data and metabolomic markers. PLoS ONE, 18.","DOI":"10.1371\/journal.pone.0281074"},{"key":"ref_167","doi-asserted-by":"crossref","first-page":"e2140998","DOI":"10.1001\/jamanetworkopen.2021.40998","article-title":"Expert evaluation of strategies to modernize newborn screening in the United States","volume":"4","author":"Bailey","year":"2021","journal-title":"JAMA Netw. Open"},{"key":"ref_168","doi-asserted-by":"crossref","unstructured":"Andrews, S.M., Porter, K.A., Bailey, D.B., and Peay, H.L. (2022). Preparing newborn screening for the future: A collaborative stakeholder engagement exploring challenges and opportunities to modernizing the newborn screening system. BMC Pediatr., 22.","DOI":"10.1186\/s12887-021-03035-x"},{"key":"ref_169","doi-asserted-by":"crossref","unstructured":"Wojcik, M.H., and Gold, N.B. (2023). Implications of genomic newborn screening for infant mortality. Int. J. Neonatal Screen., 9.","DOI":"10.3390\/ijns9010012"},{"key":"ref_170","doi-asserted-by":"crossref","unstructured":"Goldenberg, A., Ponsaran, R., Gaviglio, A., Simancek, D., and Tarini, B.A. (2022). Genomics and newborn screening: Perspectives of public health programs. Int. J. Neonatal Screen., 8.","DOI":"10.3390\/ijns8010011"},{"key":"ref_171","doi-asserted-by":"crossref","first-page":"e2023061727","DOI":"10.1542\/peds.2023-061727","article-title":"Newborn screening for neurodevelopmental disorders may exacerbate health disparities","volume":"152","author":"Sobotka","year":"2023","journal-title":"Pediatrics"},{"key":"ref_172","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1007\/s40291-022-00590-6","article-title":"A window of opportunity for newborn screening","volume":"26","author":"Bailey","year":"2022","journal-title":"Mol. Diagn. Ther."},{"key":"ref_173","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1002\/ajmg.c.31997","article-title":"Newborn screening research sponsored by the NIH: From diagnostic paradigms to precision therapeutics","volume":"190","author":"Minear","year":"2022","journal-title":"Am. J. Med. Genet. C Semin. Med. Genet."},{"key":"ref_174","doi-asserted-by":"crossref","first-page":"663752","DOI":"10.3389\/fped.2021.663752","article-title":"The use of whole genome and exome sequencing for newborn screening: Challenges and opportunities for population health","volume":"9","author":"Woerner","year":"2021","journal-title":"Front. Pediatr."},{"key":"ref_175","doi-asserted-by":"crossref","first-page":"1392","DOI":"10.1038\/s41591-020-0966-5","article-title":"The role of exome sequencing in newborn screening for inborn errors of metabolism","volume":"26","author":"Adhikari","year":"2020","journal-title":"Nat. Med."},{"key":"ref_176","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1002\/ajmg.c.32031","article-title":"Moving away from one disease at a time: Screening, trial design, and regulatory implications of novel platform technologies","volume":"193","author":"Brooks","year":"2023","journal-title":"Am. J. Med. Genet. C Semin. Med. Genet."},{"key":"ref_177","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1002\/ajmg.c.32036","article-title":"When is the best time to screen and evaluate for treatable genetic disorders? A lifespan perspective","volume":"193","author":"Parisi","year":"2023","journal-title":"Am. J. Med. Genet. C Semin. Med. Genet."},{"key":"ref_178","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1159\/000534648","article-title":"Call to action for advancing equitable genomic newborn screening","volume":"26","author":"Ersig","year":"2023","journal-title":"Public Health Genom."},{"key":"ref_179","doi-asserted-by":"crossref","first-page":"e2312231","DOI":"10.1001\/jamanetworkopen.2023.12231","article-title":"Perspectives of rare disease experts on newborn genome sequencing","volume":"6","author":"Gold","year":"2023","journal-title":"JAMA Netw. Open"},{"key":"ref_180","doi-asserted-by":"crossref","first-page":"755","DOI":"10.1038\/s41576-023-00621-w","article-title":"Genomic newborn screening for rare diseases","volume":"24","author":"Stark","year":"2023","journal-title":"Nat. Rev. Genet."},{"key":"ref_181","doi-asserted-by":"crossref","first-page":"1605","DOI":"10.1016\/j.ajhg.2022.08.003","article-title":"A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases","volume":"109","author":"Kingsmore","year":"2022","journal-title":"Am. J. Hum. Genet."},{"key":"ref_182","doi-asserted-by":"crossref","first-page":"1015","DOI":"10.1016\/j.ajhg.2023.05.002","article-title":"Progress in expanding newborn screening in the United States","volume":"110","author":"Grosse","year":"2023","journal-title":"Am. J. Hum. Genet."},{"key":"ref_183","doi-asserted-by":"crossref","first-page":"1017","DOI":"10.1016\/j.ajhg.2023.05.004","article-title":"Response to Grosse et al","volume":"110","author":"Kingsmore","year":"2023","journal-title":"Am. J. Hum. Genet."},{"key":"ref_184","doi-asserted-by":"crossref","unstructured":"Hendrix, M.M., Cuthbert, C.D., and Cordovado, S.K. (2020). Assessing the performance of dried-blood-spot DNA extraction methods in next generation sequencing. Int. J. Neonatal Screen., 6.","DOI":"10.3390\/ijns6020036"},{"key":"ref_185","doi-asserted-by":"crossref","unstructured":"Holm, I.A., Agrawal, P.B., Ceyhan-Birsoy, O., Christensen, K.D., Fayer, S., Frankel, L.A., Genetti, C.A., Krier, J.B., LaMay, R.C., and Levy, H.L. (2018). The BabySeq project: Implementing genomic sequencing in newborns. BMC Pediatr., 18.","DOI":"10.1186\/s12887-018-1200-1"},{"key":"ref_186","doi-asserted-by":"crossref","first-page":"1034","DOI":"10.1016\/j.ajhg.2023.05.007","article-title":"Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project","volume":"110","author":"Green","year":"2023","journal-title":"Am. J. Hum. Genet."},{"key":"ref_187","doi-asserted-by":"crossref","first-page":"e2114336","DOI":"10.1001\/jamanetworkopen.2021.14336","article-title":"Principles of genomic newborn screening programs: A systematic review","volume":"4","author":"Downie","year":"2021","journal-title":"JAMA Netw. Open"},{"key":"ref_188","doi-asserted-by":"crossref","unstructured":"Currier, R.J. (2022). Newborn screening is on a collision course with public health ethics. Int. J. Neonatal Screen., 8.","DOI":"10.3390\/ijns8040051"},{"key":"ref_189","doi-asserted-by":"crossref","unstructured":"Bick, D., Ahmed, A., Deen, D., Ferlini, A., Garnier, N., Kasperaviciute, D., Leblond, M., Pichini, A., Rendon, A., and Satija, A. (2022). Newborn screening by genomic sequencing: Opportunities and challenges. Int. J. Neonatal Screen., 8.","DOI":"10.3390\/ijns8030040"},{"key":"ref_190","first-page":"100581","article-title":"Newborn sequencing is only part of the solution for better child health","volume":"25","author":"Brunelli","year":"2023","journal-title":"Lancet. Reg. Health Am."},{"key":"ref_191","unstructured":"WSFA 12 News (2023, May 05). Alabama Begins Screening Newborns or 2 Additional Genetic Disorders. Available online: https:\/\/www.wsfa.com\/2023\/03\/21\/alabama-begins-screening-newborns-2-additional-genetic-disorders\/."},{"key":"ref_192","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1007\/s12687-023-00684-6","article-title":"The CPT1A Arctic variant: Perspectives of community members and providers in two Alaska tribal health settings","volume":"14","author":"Beans","year":"2023","journal-title":"J. Community Genet."},{"key":"ref_193","doi-asserted-by":"crossref","first-page":"1321","DOI":"10.1007\/s10875-022-01307-4","article-title":"Severe combined immunodeficiency (SCID) screening in Arizona: Lessons learned from the first 2 years","volume":"42","author":"Booth","year":"2022","journal-title":"J. Clin. Immunol."},{"key":"ref_194","unstructured":"Arkansas Democrat Gazette (2023, November 19). Arkansas Adopts Federal List for Newborn Screening; New Screenings Fee Won\u2019t Change. Available online: https:\/\/www.arkansasonline.com\/news\/2023\/jul\/31\/arkansas-adopts-federal-list-for-newborn-screening\/."},{"key":"ref_195","doi-asserted-by":"crossref","unstructured":"Peng, G., Tang, Y., Cowan, T.M., Enns, G.M., Zhao, H., and Scharfe, C. (2020). Reducing false-positive results in newborn screening using machine learning. Int. J. Neonatal Screen., 6.","DOI":"10.3390\/ijns6010016"},{"key":"ref_196","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1002\/jimd.12591","article-title":"Validation of a targeted metabolomics panel for improved second-tier newborn screening","volume":"46","author":"Mak","year":"2023","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_197","doi-asserted-by":"crossref","unstructured":"Puck, J.M., and Gennery, A.R. (2021). Establishing Newborn Screening for SCID in the USA; experience in California. Int. J. Neonatal Screen., 7.","DOI":"10.3390\/ijns7040072"},{"key":"ref_198","doi-asserted-by":"crossref","unstructured":"Matteson, J., Sciortino, S., Feuchtbaum, L., Bishop, T., Olney, R.S., and Tang, H. (2021). Adrenoleukodystrophy newborn screening in California since 2016: Programmatic outcomes and follow-up. Int. J. Neonatal Screen., 7.","DOI":"10.3390\/ijns7020022"},{"key":"ref_199","doi-asserted-by":"crossref","unstructured":"Tang, H., Matteson, J., Rinaldo, P., Tortorelli, S., Currier, R., and Sciortino, S. (2020). The clinical impact of CLIR tools toward rapid resolution of post-newborn screening confirmatory testing for X-linked adrenoleukodystrophy in California. Int. J. Neonatal Screen., 6.","DOI":"10.3390\/ijns6030062"},{"key":"ref_200","doi-asserted-by":"crossref","unstructured":"Tang, H., Feuchtbaum, L., Sciortino, S., Matteson, J., Mathur, D., Bishop, T., and Olney, R.S. (2020). The first year experience of newborn screening for Pompe Disease in California. Int. J. Neonatal Screen., 6.","DOI":"10.3390\/ijns6010009"},{"key":"ref_201","doi-asserted-by":"crossref","first-page":"777","DOI":"10.3233\/JND-221561","article-title":"California\u2019s experience with SMA newborn screening: A successful path to early intervention","volume":"9","author":"Matteson","year":"2022","journal-title":"J. Neuromuscul. Dis."},{"key":"ref_202","doi-asserted-by":"crossref","first-page":"113644","DOI":"10.1016\/j.jpeds.2023.113644","article-title":"First three years\u2019 experience of Mucopolysaccharidosis Type-1 newborn screening in California","volume":"263","author":"Fillman","year":"2023","journal-title":"J. Pediatr."},{"key":"ref_203","doi-asserted-by":"crossref","first-page":"1848","DOI":"10.1002\/ajmg.a.62160","article-title":"Aicardi-Gouti\u00e8res syndrome may present with positive newborn screen for X-linked adrenoleukodystrophy","volume":"185","author":"Tise","year":"2021","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_204","doi-asserted-by":"crossref","first-page":"1412","DOI":"10.1002\/ajmg.a.63144","article-title":"Neonatal lupus is a novel cause of positive newborn screening for X-linked adrenoleukodystrophy","volume":"191","author":"Niehaus","year":"2023","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_205","doi-asserted-by":"crossref","first-page":"1492","DOI":"10.1002\/ajmg.a.63159","article-title":"MT-ATP6 mitochondrial disease identified by newborn screening reveals a distinct biochemical phenotype","volume":"191","author":"Tise","year":"2023","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_206","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1016\/j.ymgme.2021.08.005","article-title":"Improving outcomes for Colorado\u2019s IRT-IRT-DNA cystic fibrosis newborn screening algorithm by implementing floating cutoffs","volume":"134","author":"Martiniano","year":"2021","journal-title":"Mol. Genet. Metab."},{"key":"ref_207","doi-asserted-by":"crossref","unstructured":"Raboin, K., Ellis, D., Nichols, G., Hughes, M., Brimacombe, M., and Rubin, K. (2024). Advancing newborn screening long-term follow-up: Integration of Epic-based registries, dashboards, and efficient workflows. Int. J. Neonatal Screen., 10.","DOI":"10.3390\/ijns10020027"},{"key":"ref_208","unstructured":"Tullis, K. Personal communication."},{"key":"ref_209","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1002\/ajmg.a.61930","article-title":"Mucopolysaccharidosis type I newborn screening: Importance of second tier testing for ethnically diverse populations","volume":"185","author":"Bosfield","year":"2021","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_210","unstructured":"(2023, December 26). Florida Newborn Screening. Florida Department of Health Newborn Screening Newsletter. April 2023. Available online: https:\/\/floridanewbornscreening.com\/news-updates\/q1-2023\/."},{"key":"ref_211","doi-asserted-by":"crossref","first-page":"3478","DOI":"10.1002\/ppul.26678","article-title":"Improvement in cystic fibrosis newborn screening program outcomes with genetic counseling via telemedicine","volume":"58","author":"Stalker","year":"2023","journal-title":"Pediatr. Pulmonol."},{"key":"ref_212","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1016\/j.ymgme.2019.11.008","article-title":"Increased parental anxiety and a benign clinical course: Infants identified with short-chain acyl-CoA dehydrogenase deficiency and isobutyryl-CoA dehydrogenase deficiency through newborn screening in Georgia","volume":"129","author":"Sadat","year":"2020","journal-title":"Mol. Genet. Metab."},{"key":"ref_213","doi-asserted-by":"crossref","unstructured":"Hall, P.L., Wittenauer, A., and Hagar, A. (2020). Post-analytical tools for the triage of newborn screening results in follow-up can reduce confirmatory testing and guide performance improvement. Int. J. Neonatal Screen., 6.","DOI":"10.3390\/ijns6010020"},{"key":"ref_214","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1002\/ajmg.c.31996","article-title":"Proximal urea cycle defects are challenging to detect with newborn screening: Results of a prospective pilot study using post-analytical tools","volume":"190","author":"Hall","year":"2022","journal-title":"Am. J. Med. Genet. C Semin. Med. Genet."},{"key":"ref_215","doi-asserted-by":"crossref","unstructured":"Hall, P.L., Li, H., Hagar, A.F., Jerris, S.C., Wittenauer, A., and Wilcox, W. (2020). Newborn screening for X-linked adrenoleukodystrophy in Georgia: Experiences from a pilot study screening of 51,081 newborns. Int. J. Neonatal Screen., 6.","DOI":"10.3390\/ijns6040081"},{"key":"ref_216","doi-asserted-by":"crossref","unstructured":"Hall, P.L., Sanchez, R., Hagar, A.F., Jerris, S.C., Wittenauer, A., and Wilcox, W.R. (2020). Two-tiered newborn screening with post-analytical tools for Pompe disease and mucopolysaccharidosis type I results in performance improvement and future direction. Int. J. Neonatal Screen., 6.","DOI":"10.3390\/ijns6010002"},{"key":"ref_217","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1002\/ajmg.c.32003","article-title":"Georgia state spinal muscular atrophy newborn screening experience: Screening assay performance and early clinical outcomes","volume":"190","author":"Elkins","year":"2022","journal-title":"Am. J. Med. Genet. C Semin. Med. Genet."},{"key":"ref_218","unstructured":"(2023, December 27). State of Hawai\u2019i Department of Health. Ka \u2018Oihana Olakino. Newborn Metabolic Screening Program, Available online: https:\/\/health.hawaii.gov\/genetics\/category\/announcements\/."},{"key":"ref_219","unstructured":"Idaho Department of Health and Welfare (2023, November 17). Idaho Newborns Will Be Screened for Additional Illnesses and Conditions. 26 January 2022, Available online: https:\/\/healthandwelfare.idaho.gov\/news\/idaho-newborns-be-screened-additional-illnesses-and-conditions."},{"key":"ref_220","unstructured":"Idaho Division of Public Health (2023). Idaho Title V Maternal & Child Health Services Block Grant Executive Summary."},{"key":"ref_221","unstructured":"Idaho Department of Health and Welfare (2023, November 30). DHW Communications. Gov. Little declares September Newborn Screening Awareness Month, Available online: https:\/\/healthandwelfare.idaho.gov\/news\/gov-little-declares-september-newborn-screening-awareness-month."},{"key":"ref_222","unstructured":"Illinois State Senator Laura Fine (2023, November 28). Senator Fine Expands Newborn Screening Test to Include MLD. 28 July 2023, Available online: http:\/\/www.senatorfine.com\/news\/press-releases\/240-senator-fine-expands-newborn-screening-test-to-include-mld."},{"key":"ref_223","doi-asserted-by":"crossref","unstructured":"Burton, B.K., Charrow, J., Hoganson, G.E., Fleischer, J., Grange, D.K., Braddock, S.R., Hitchins, L., Hickey, R., Christensen, K.M., and Groepper, D. (2020). Newborn screening for Pompe disease in Illinois: Experience with 684,290 infants. Int. J. Neonatal Screen., 6.","DOI":"10.3390\/ijns6010004"},{"key":"ref_224","doi-asserted-by":"crossref","unstructured":"Basheeruddin, K., Shao, R., Balster, F., Gardley, P., and Ashbaugh, L. (2021). Newborn screening for Krabbe disease-Illinois experience: Role of psychosine in diagnosis of the disease. Int. J. Neonatal Screen., 7.","DOI":"10.3390\/ijns7020024"},{"key":"ref_225","doi-asserted-by":"crossref","unstructured":"Burton, B.K., Hickey, R., Hitchins, L., Shively, V., Ehrhardt, J., Ashbaugh, L., Peng, Y., and Basheeruddin, K. (2022). Newborn screening for X-linked adrenoleukodystrophy: The initial Illinois experience. Int. J. Neonatal Screen., 8.","DOI":"10.3390\/ijns8010006"},{"key":"ref_226","doi-asserted-by":"crossref","unstructured":"Burton, B.K., Hickey, R., and Hitchins, L. (2020). Newborn screening for mucopolysaccharidosis type II in Illinois: An update. Int. J. Neonatal Screen., 6.","DOI":"10.3390\/ijns6030073"},{"key":"ref_227","doi-asserted-by":"crossref","first-page":"107557","DOI":"10.1016\/j.ymgme.2023.107557","article-title":"Newborn screening for mucopolysaccharidosis type II: Lessons learned","volume":"140","author":"Burton","year":"2023","journal-title":"Mol. Genet. Metab."},{"key":"ref_228","doi-asserted-by":"crossref","first-page":"S17","DOI":"10.1016\/j.gim.2022.01.064","article-title":"Newborn screening for Pompe disease: The Indiana experience","volume":"24","author":"McPheron","year":"2022","journal-title":"Genet. Med."},{"key":"ref_229","unstructured":"Rady Children\u2019s Institute for Genomic Medicine (2023, November 30). Newborn Genomic Sequencing. To End the Diagnostic Odyssey. Available online: https:\/\/radygenomics.org\/begin-ngs-newborn-sequencing\/."},{"key":"ref_230","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1002\/ajmg.c.32005","article-title":"Dispatches from biotech beginning BeginNGS\u00ae: Rapid newborn genome sequencing to end the diagnostic and therapeutic odyssey","volume":"190","author":"Kingsmore","year":"2022","journal-title":"Am. J. Med. Genet. C Semin. Med. Genet."},{"key":"ref_231","unstructured":"Every Life Foundation for Rare Diseases (2023, November 27). Iowa Passes Life-Saving Newborn Screening Legislation. Available online: https:\/\/everylifefoundation.org\/iowa-passes-life-saving-newborn-screening-legislation-2\/."},{"key":"ref_232","unstructured":"State Hygienic Laboratory at the University of Iowa (2023, November 30). Technical Updates. Available online: https:\/\/www.shl.uiowa.edu\/technicalupdates\/sma_added_to_newborn_screening_panel.xml."},{"key":"ref_233","unstructured":"State Hygienic Laboratory at the University of Iowa (2023, November 30). News\u2014Implementation of MPS-I and Pompe Newborn Screening. Available online: https:\/\/www.shl.uiowa.edu\/news\/mps1_and_pompe_testing_xml."},{"key":"ref_234","unstructured":"Iowa.gov (2023, November 30). To Whom It May Concern. 15 March 2023, Available online: https:\/\/hhs.iowa.gov\/media\/365\/download?inline."},{"key":"ref_235","doi-asserted-by":"crossref","unstructured":"Jilek, R., Marcy, J., Johnson, C., Younger, G., Calhoun, A., and Tung, M.L. (2024). Iowa newborn screening program experience with hemoglobinopathy screening over the last two decades and its increasing global relevance. Int. J. Neonatal Screen., 10.","DOI":"10.3390\/ijns10010021"},{"key":"ref_236","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1053\/j.semperi.2015.03.008","article-title":"Newborn screening for sickle cell diseases in the United States: A review of data spanning 2 decades","volume":"39","author":"Therrell","year":"2015","journal-title":"Semin. Perinatol."},{"key":"ref_237","unstructured":"Motter, S. (2023, November 27). Kansas Expands Screening of Newborns. 13WIBW. Available online: https:\/\/www.wibw.com\/2021\/01\/05\/kansas-expands-screening-of-newborns\/."},{"key":"ref_238","unstructured":"Dubay, K.S., and Zach, T.L. (2024). StatPearls, StatPearls Publishing. Updated 1 May 2023."},{"key":"ref_239","doi-asserted-by":"crossref","unstructured":"Asamoah, A., Wei, S., Jackson, K.E., Hersh, J.H., and Levy, H. (2021). Diagnosis of classic homocystinuria in two boys presenting with acute cerebral venous thrombosis and neurologic dysfunction after normal newborn screening. Int. J. Neonatal Screen., 7.","DOI":"10.3390\/ijns7030048"},{"key":"ref_240","unstructured":"Louisiana.gov (2023, November 27). Louisiana Newborn Screening Panel Update, Available online: https:\/\/ldh.la.gov\/assets\/oph\/Center-PHCH\/Center-PH\/cshs\/genetics\/NBS_Update_2021_AnnouncementOfNewTests.pdf."},{"key":"ref_241","unstructured":"Maine.gov (2023, November 30). Maine Newborn Bloodspot Screening Program, Available online: https:\/\/www.maine.gov\/dhhs\/mecdc\/population-health\/mch\/cshn\/bloodspot-screening\/."},{"key":"ref_242","unstructured":"Leigh, V. (2023, November 30). New Maine Law Could Lead to Early Detection of CMV in Newborns. News Center Maine, Available online: https:\/\/www.newscentermaine.com\/article\/news\/health\/new-maine-law-could-lead-to-early-detection-of-cmv-in-newborns-health-community\/97-c0930c45-7d0a-47a8-baa5-36bc9cebcef0."},{"key":"ref_243","unstructured":"Maryland.gov (2023, December 26). Newborn Bloodspot Screening Collection for Provider Offices, Available online: https:\/\/health.maryland.gov\/phpa\/genetics\/docs\/NBS\/specimencollectionforprovideroffices.pdf."},{"key":"ref_244","unstructured":"(2023, November 27). Every Life Foundation for Rare Diseases. Maryland Passes Life-Saving Newborn Screening Legislation. Available online: https:\/\/everylifefoundation.org\/maryland-passes-life-saving-newborn-screening-legislation\/."},{"key":"ref_245","unstructured":"(2023, November 30). UMass Chan Medical School: New England Newborn Screening Program. Types of Screening: Routine and Optional. Available online: https:\/\/nensp.umassmed.edu\/parents\/massachusetts-parents\/types-screening-routine-and-optional."},{"key":"ref_246","doi-asserted-by":"crossref","unstructured":"Kumar, B., Barton, S., Kordowska, J., Eaton, R.B., Counihan, A.M., Hale, J.E., and Comeau, A.M. (2021). Novel modification of a confirmatory SMA sequencing assay that can be used to determine SMN2 copy number. Int. J. Neonatal Screen., 7.","DOI":"10.3390\/ijns7030047"},{"key":"ref_247","doi-asserted-by":"crossref","unstructured":"Hale, J.E., Darras, B.T., Swoboda, K.J., Estrella, E., Chen, J.Y.H., Abbott, M.A., Hay, B.N., Kumar, B., Counihan, A.M., and Gerstel-Thompson, J. (2021). Massachusetts\u2019 findings from statewide newborn screening for spinal muscular atrophy. Int. J. Neonatal Screen., 7.","DOI":"10.3390\/ijns7020026"},{"key":"ref_248","doi-asserted-by":"crossref","first-page":"2060","DOI":"10.1016\/j.jaip.2021.02.006","article-title":"Ten years of newborn screening for severe combined immunodeficiency (SCID) in Massachusetts","volume":"9","author":"Hale","year":"2021","journal-title":"J. Allergy Clin. Immunol. Pract."},{"key":"ref_249","doi-asserted-by":"crossref","first-page":"e105","DOI":"10.1093\/cid\/ciac158","article-title":"Trends in severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) seroprevalence in Massachusetts estimated from newborn screening specimens","volume":"75","author":"Ma","year":"2022","journal-title":"Clin. Infect. Dis."},{"key":"ref_250","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1016\/j.jpeds.2019.08.061","article-title":"Can newborn screening for vitamin B12 deficiency be incorporated into all newborn screening programs?","volume":"216","author":"Hawthorne","year":"2020","journal-title":"J. Pediatr."},{"key":"ref_251","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1093\/clinchem\/hvad027","article-title":"Is more effective newborn screening for homocystinuria on the horizon?","volume":"69","author":"Levy","year":"2023","journal-title":"Clin. Chem."},{"key":"ref_252","unstructured":"White, E. (2023, November 30). Michigan to Destroy Millions of Leftover Blood Samples It Took from Newborns. Detroit Free Press. Available online: https:\/\/www.freep.com\/story\/news\/local\/michigan\/detroit\/2022\/06\/23\/leftover-newborn-blood-spots-consent-fight\/7712527001\/."},{"key":"ref_253","doi-asserted-by":"crossref","first-page":"1013","DOI":"10.1016\/j.pcl.2023.06.003","article-title":"Newborn screening","volume":"70","author":"Pappas","year":"2023","journal-title":"Pediatr. Clin. N. Am."},{"key":"ref_254","doi-asserted-by":"crossref","unstructured":"Chen, H.F., Rose, A.M., Waisbren, S., Ahmad, A., and Prosser, L.A. (2021). Newborn screening and treatment of phenylketonuria: Projected health outcomes and cost-effectiveness. Children, 8.","DOI":"10.3390\/children8050381"},{"key":"ref_255","doi-asserted-by":"crossref","first-page":"776","DOI":"10.1016\/j.anai.2022.07.016","article-title":"Newborn tandem mass spectroscopy screening for adenosine deaminase deficiency","volume":"129","author":"Holsworth","year":"2022","journal-title":"Ann. Allergy Asthma Immunol."},{"key":"ref_256","doi-asserted-by":"crossref","first-page":"1102","DOI":"10.1002\/ajmg.a.62623","article-title":"Transcobalamin receptor deficiency in seven asymptomatic patients ascertained through newborn screening","volume":"188","author":"Pappas","year":"2022","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_257","doi-asserted-by":"crossref","unstructured":"Thompson, K., Atkinson, S., and Kleyn, M. (2022). Use of online newborn screening educational resources for the education of expectant parents: An improvement in equity. Int. J. Neonatal Screen., 8.","DOI":"10.3390\/ijns8020034"},{"key":"ref_258","doi-asserted-by":"crossref","unstructured":"Omari, A., Reeves, S.L., Prosser, L.A., Creary, M.S., Ahmad, A., and Chua, K.P. (2022). Usability of NewSTEPs data for assessing the characteristics of infants with newborn screening disorders. Int. J. Neonatal Screen., 8.","DOI":"10.3390\/ijns8030042"},{"key":"ref_259","unstructured":"Minnesota Department of Health (2023, December 01). 2023 News Releases. Available online: https:\/\/www.health.state.mn.us\/news\/pressrel\/index.html."},{"key":"ref_260","doi-asserted-by":"crossref","first-page":"e205441","DOI":"10.1001\/jamapediatrics.2020.5441","article-title":"Sensitivity of dried blood spot testing for detection of congenital cytomegalovirus infection","volume":"175","author":"Dollard","year":"2021","journal-title":"JAMA Pediatr."},{"key":"ref_261","doi-asserted-by":"crossref","first-page":"958","DOI":"10.1093\/jpids\/piab033","article-title":"Detection of cytomegalovirus in urine dried on filter paper","volume":"10","author":"Amin","year":"2021","journal-title":"J. Pediatr. Infect. Dis. Soc."},{"key":"ref_262","doi-asserted-by":"crossref","unstructured":"Schleiss, M.R., Panther, L., Basnet, S., Workneh, M., and Diaz-Decaro, J. (2023). Comparison of overall sensitivity and specificity across different newborn screening algorithms for congenital cytomegalovirus. Int. J. Neonatal Screen., 9.","DOI":"10.3390\/ijns9020033"},{"key":"ref_263","doi-asserted-by":"crossref","unstructured":"Hernandez-Alvarado, N., Bierle, C.J., and Schleiss, M.R. (2024). Droplet digital PCR (ddPCR) does not enhance the sensitivity of detection of cytomegalovirus (CMV) DNA in newborn dried blood spots evaluated in the context of newborn congenital CMV (cCMV) screening. Int. J. Neonatal Screen., 10.","DOI":"10.3390\/ijns10010001"},{"key":"ref_264","unstructured":"Every Life Foundation for Rare Diseases (2023, November 27). Mississippi Passes Life-Saving Newborn Screening Legislation. Available online: https:\/\/everylifefoundation.org\/mississippi-becomes-first-state-in-2022-to-sign-newborn-screening-legislation\/."},{"key":"ref_265","doi-asserted-by":"crossref","unstructured":"Klug, T.L., Swartz, L.B., Washburn, J., Brannen, C., and Kiesling, J.L. (2020). Lessons learned from Pompe disease newborn screening and follow-up. Int. J. Neonatal Screen., 6.","DOI":"10.3390\/ijns6010011"},{"key":"ref_266","doi-asserted-by":"crossref","unstructured":"Bilyeu, H., Washburn, J., Vermette, L., and Klug, T. (2020). Validation and implementation of a highly sensitive and efficient newborn screening assay for mucopolysaccharidosis type II. Int. J. Neonatal Screen., 6.","DOI":"10.3390\/ijns6040079"},{"key":"ref_267","doi-asserted-by":"crossref","first-page":"734096","DOI":"10.3389\/fimmu.2021.734096","article-title":"Immunological findings and clinical outcomes of infants with positive newborn screening for severe combined immunodeficiency from a tertiary care center in the USA","volume":"12","author":"Mantravadi","year":"2021","journal-title":"Front. Immunol."},{"key":"ref_268","unstructured":"Montana.gov (2023, December 26). Newborn Screening Advisory Committee, Available online: https:\/\/dphhs.mt.gov\/boardscouncils\/NBS\/index."},{"key":"ref_269","doi-asserted-by":"crossref","unstructured":"Baker, C.V., Cady Keller, A., Lutz, R., Eveans, K., Baumert, K., DiPerna, J.C., and Rizzo, W.B. (2022). Newborn screening for X-linked adrenoleukodystrophy in Nebraska: Initial experiences and challenges. Int. J. Neonatal Screen., 8.","DOI":"10.3390\/ijns8020029"},{"key":"ref_270","unstructured":"Cure SMA (2023, December 26). Nevada Starts Screening for SMA\u2014Only One State Remains! 21 December 2023. Available online: https:\/\/www.curesma.org\/nevada-starts-screening-for-sma-dec2023\/."},{"key":"ref_271","unstructured":"New Hampshire DHHS (2023, December 03). Newborn Screening Program. 2020 Annual Report on Newborn Screening, Available online: https:\/\/www.dhhs.nh.gov\/sites\/g\/files\/ehbemt476\/files\/documents\/2021-11\/nbs-annual-report-2020.pdf."},{"key":"ref_272","unstructured":"New Hampshire DHHS (2023, December 03). Newborn Screening Program. NBS Advisory Committee Minutes, Available online: https:\/\/www.dhhs.nh.gov\/sites\/g\/files\/ehbemt476\/files\/documents2\/nbsac-minutes-10-23.pdf."},{"key":"ref_273","unstructured":"Difilipo, D. (2023, November 30). Judge Orders State to Release Information about Police Use of Baby Blood Spots. New Jersey Monitor. Available online: https:\/\/newjerseymonitor.com\/2023\/01\/04\/judge-orders-state-to-release-information-about-police-use-of-baby-blood-spots\/."},{"key":"ref_274","doi-asserted-by":"crossref","first-page":"1307","DOI":"10.1126\/science.adh2746","article-title":"Protect newborn screening programs","volume":"379","author":"Owens","year":"2023","journal-title":"Science"},{"key":"ref_275","unstructured":"Difilipo, D. (2023, November 30). Civil Rights Group Sues New Jersey to Stop Secret Storage, Use of Baby Blood Spots. New Jersey Monitor. Available online: https:\/\/newjerseymonitor.com\/2023\/11\/02\/civil-rights-group-sues-new-jersey-to-stop-secret-storage-use-of-baby-blood-spots\/."},{"key":"ref_276","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1002\/ppul.26734","article-title":"Severe lung disease in children with cystic fibrosis missed in newborn screening","volume":"59","author":"Baldwin","year":"2024","journal-title":"Pediatr. Pulmonol."},{"key":"ref_277","unstructured":"(2023, December 04). Bill Track 50. NJ S3975. Establishes Requirements to Commence Screening Newborn Infants for Congenital Cytomegalovirus Infection; Establishes Public Awareness Campaign. Available online: https:\/\/www.billtrack50.com\/billdetail\/1381637."},{"key":"ref_278","unstructured":"New Mexico Department of Health (2023, December 26). Newborn Genetic Screening. Available online: https:\/\/www.nmhealth.org\/about\/phd\/fhb\/cms\/nbgs\/."},{"key":"ref_279","unstructured":"Oregon.gov (2023, December 26). Northwest Regional Newborn Bloodspot Screening Program Advisory Board. 2022 Advisory Board Report to the Legislature, Available online: https:\/\/sharedsystems.dhsoha.state.or.us\/DHSForms\/Served\/le4233.pdf."},{"key":"ref_280","unstructured":"Wadsworth Center, New York State Department of Health (2023, December 04). Newborn Screening for Cytomegalovirus (CMV). Available online: https:\/\/www.wadsworth.org\/sites\/default\/files\/WebDoc\/017286_20547_NewbornScreeningCMV_web_final.pdf."},{"key":"ref_281","unstructured":"PPMD30 (2023, November 30). Duchenne Added to New York State\u2019s Newborn Screening Panel. Available online: https:\/\/www.parentprojectmd.org\/duchenne-added-to-new-york-states-newborn-screening-panel\/."},{"key":"ref_282","doi-asserted-by":"crossref","unstructured":"Hartnett, M.J., Lloyd-Puryear, M.A., Tavakoli, N.P., Wynn, J., Koval-Burt, C.L., Gruber, D., Trotter, T., Caggana, M., Chung, W.K., and Armstrong, N. (2022). Newborn screening for Duchenne muscular dystrophy: First year results of a population-based pilot. Int. J. Neonatal Screen., 8.","DOI":"10.3390\/ijns8040050"},{"key":"ref_283","doi-asserted-by":"crossref","first-page":"1383","DOI":"10.1002\/acn3.51829","article-title":"Duchenne Muscular dystrophy pilot study group. Newborn screening for Duchenne muscular dystrophy: A two-year pilot study","volume":"10","author":"Tavakoli","year":"2023","journal-title":"Ann. Clin. Transl. Neurol."},{"key":"ref_284","doi-asserted-by":"crossref","first-page":"652","DOI":"10.1002\/mus.27533","article-title":"Creatine kinase-MM concentration in dried blood spots from newborns and implications for newborn screening for Duchenne muscular dystrophy","volume":"65","author":"Park","year":"2022","journal-title":"Muscle Nerve"},{"key":"ref_285","doi-asserted-by":"crossref","unstructured":"Wynn, J., Tavakoli, N.P., Armstrong, N., Gomez, J., Koval, C., Lai, C., Tang, S., Quevedo Prince, A., Quevedo, Y., and Rufino, K. (2022). Improving recruitment for a newborn screening pilot study with adaptations in response to the COVID-19 pandemic. Int. J. Neonatal Screen., 8.","DOI":"10.3390\/ijns8020023"},{"key":"ref_286","doi-asserted-by":"crossref","unstructured":"Martin, M.M., Wilson, R., Caggana, M., and Orsini, J.J. (2020). The impact of post-analytical tools on New York screening for Krabbe disease and Pompe disease. Int. J. Neonatal Screen., 6.","DOI":"10.3390\/ijns6030065"},{"key":"ref_287","doi-asserted-by":"crossref","first-page":"1296","DOI":"10.1038\/s41436-020-0824-3","article-title":"Implementation of population-based newborn screening reveals low incidence of spinal muscular atrophy","volume":"22","author":"Kay","year":"2020","journal-title":"Genet. Med."},{"key":"ref_288","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1097\/MED.0000000000000515","article-title":"Adrenoleukodystrophy in the era of newborn screening","volume":"27","author":"Eng","year":"2020","journal-title":"Curr. Opin. Endocrinol. Diabetes Obes."},{"key":"ref_289","doi-asserted-by":"crossref","first-page":"456","DOI":"10.1007\/s10875-020-00757-y","article-title":"Retrospective analysis of a New York newborn screen severe combined immunodeficiency referral center","volume":"40","author":"Gans","year":"2020","journal-title":"J. Clin. Immunol."},{"key":"ref_290","doi-asserted-by":"crossref","unstructured":"McMahon, R., DeMartino, L., Sowizral, M., Powers, D., Tracy, M., Caggana, M., and Tavakoli, N.P. (2021). The impact of seasonal changes on thyroxine and thyroid-stimulating hormone in newborns. Int. J. Neonatal Screen., 7.","DOI":"10.3390\/ijns7010008"},{"key":"ref_291","doi-asserted-by":"crossref","unstructured":"Sicko, R.J., Stevens, C.F., Hughes, E.E., Leisner, M., Ling, H., Saavedra-Matiz, C.A., Caggana, M., and Kay, D.M. (2021). Validation of a custom next-generation sequencing assay for cystic fibrosis newborn screening. Int. J. Neonatal Screen., 7.","DOI":"10.3390\/ijns7040073"},{"key":"ref_292","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1016\/j.ymgme.2022.01.101","article-title":"Method modification to reduce false positives for newborn screening of guanidinoacetate methyltransferase deficiency","volume":"135","author":"Wojcik","year":"2022","journal-title":"Mol. Genet. Metab."},{"key":"ref_293","doi-asserted-by":"crossref","first-page":"e1527","DOI":"10.1212\/WNL.0000000000200986","article-title":"Newborn screening for spinal muscular atrophy in New York State: Clinical outcomes from the first 3 years","volume":"99","author":"Lee","year":"2022","journal-title":"Neurology"},{"key":"ref_294","doi-asserted-by":"crossref","unstructured":"DeCelie-Germana, J.K., Bonitz, L., Langfelder-Schwind, E., Kier, C., Diener, B.L., and Berdella, M. (2023). Diagnostic and communication challenges in cystic fibrosis newborn screening. Life, 13.","DOI":"10.3390\/life13081646"},{"key":"ref_295","unstructured":"Columbia-Columbia University Irving Medical Center (2024, January 02). Can Genomic Screening of Newborns Help More Children Born with Rare Diseases?. Available online: https:\/\/www.cuimc.columbia.edu\/news\/can-genomic-screening-newborns-help-more-children-born-rare-diseases."},{"key":"ref_296","unstructured":"Every Life Foundation for Rare Diseases (2023, November 27). North Carolina Becomes Fourth State in 2021 to Sign Newborn Screening Legislation. Available online: https:\/\/everylifefoundation.org\/north-carolina-becomes-fourth-state-in-2021-to-sign-newborn-screening-legislation\/."},{"key":"ref_297","unstructured":"NCDHHS (2023, November 27). NC Newborns Now Screened for Two Additional Disorders to Help Provide Early Diagnosis and Treatment. , Available online: https:\/\/www.ncdhhs.gov\/news\/press-releases\/2023\/02\/13\/nc-newborns-now-screened-two-additional-disorders-help-provide-early-diagnosis-and-treatment."},{"key":"ref_298","doi-asserted-by":"crossref","unstructured":"Kucera, K.S., Taylor, J.L., Robles, V.R., Clinard, K., Migliore, B., Boyea, B.L., Okoniewski, K.C., Duparc, M., Rehder, C.W., and Shone, S.M. (2021). A voluntary statewide newborn screening pilot for spinal muscular atrophy: Results from Early Check. Int. J. Neonatal Screen., 7.","DOI":"10.3390\/ijns7010020"},{"key":"ref_299","doi-asserted-by":"crossref","first-page":"e1920356","DOI":"10.1001\/jamanetworkopen.2019.20356","article-title":"Evaluation of X-linked adrenoleukodystrophy newborn screening in North Carolina","volume":"3","author":"Lee","year":"2020","journal-title":"JAMA Netw. Open"},{"key":"ref_300","doi-asserted-by":"crossref","unstructured":"Bailey, D.B., Gehtland, L.M., Lewis, M.A., Peay, H., Raspa, M., Shone, S.M., Taylor, J.L., Wheeler, A.C., Cotton, M., and King, N.M.P. (2019). Early Check: Translational science at the intersection of public health and newborn screening. BMC Pediatr., 19.","DOI":"10.1186\/s12887-019-1606-4"},{"key":"ref_301","doi-asserted-by":"crossref","first-page":"e30941","DOI":"10.2196\/30941","article-title":"Using a patient portal to increase enrollment in a newborn screening research study: Observational study","volume":"5","author":"Gehtland","year":"2022","journal-title":"JMIR Pediatr. Parent."},{"key":"ref_302","doi-asserted-by":"crossref","first-page":"880","DOI":"10.1111\/cts.12950","article-title":"Outreach to new mothers through direct mail and email: Recruitment in the Early Check research study","volume":"14","author":"Paquin","year":"2021","journal-title":"Clin. Transl. Sci."},{"key":"ref_303","doi-asserted-by":"crossref","first-page":"891592","DOI":"10.3389\/fgene.2022.891592","article-title":"Education and consent for population-based DNA Screening: A mixed-methods evaluation of the Early Check newborn screening pilot study","volume":"13","author":"Peay","year":"2022","journal-title":"Front. Genet."},{"key":"ref_304","unstructured":"UNC School of Medicine Newsroom (2023, November 27). Early Check Study to Use Genome Sequencing to Dramatically Expand Voluntary Screening Offered for NC Newborns. Available online: https:\/\/news.unchealthcare.org\/2023\/09\/early-check-study-to-use-genome-sequencing-to-dramatically-expand-voluntary-screening-offered-for-nc-newborns\/."},{"key":"ref_305","doi-asserted-by":"crossref","first-page":"346","DOI":"10.1016\/j.jmoldx.2019.11.002","article-title":"Validation of fragile X screening in the newborn population using a fit-for-purpose FMR1 PCR assay system","volume":"22","author":"Lee","year":"2020","journal-title":"J. Mol. Diagn."},{"key":"ref_306","doi-asserted-by":"crossref","unstructured":"Migliore, B.A., Zhou, L., Duparc, M., Robles, V.R., Rehder, C.W., Peay, H.L., and Kucera, K.S. (2022). Evaluation of the GSP creatine kinase-MM assay and assessment of CK-MM stability in newborn, patient, and contrived dried blood spots for newborn screening for Duchenne muscular dystrophy. Int. J. Neonatal Screen., 8.","DOI":"10.3390\/ijns8010012"},{"key":"ref_307","doi-asserted-by":"crossref","first-page":"101009","DOI":"10.1016\/j.gim.2023.101009","article-title":"Two years of newborn screening for Duchenne muscular dystrophy as a part of the statewide Early Check research program in North Carolina","volume":"26","author":"Kucera","year":"2024","journal-title":"Genet. Med."},{"key":"ref_308","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1007\/s10995-018-2598-7","article-title":"Investigation of predictors of newborn screening refusal in a large birth cohort in North Dakota, USA","volume":"23","author":"Njau","year":"2019","journal-title":"Matern. Child Health J."},{"key":"ref_309","unstructured":"Every Life Foundation for Rare Diseases (2023, November 27). Every Life Applauds Newborn Screening Laws in Ohio and Arizona to Save Babies. Available online: https:\/\/everylifefoundation.org\/everylife-applauds-newborn-screening-laws-in-ohio-and-arizona-to-save-babies\/."},{"key":"ref_310","unstructured":"Ohio Hospital Association (2023, November 30). Ohio Increases Fees for Newborn Screening Kits, Surprise Billing Arbitration. Available online: https:\/\/ohiohospitals.org\/News-Publications\/Subscriptions\/Ohio-Hospitals-Newswire\/Articles\/Ohio-Increases-Fees-for-Newborn-Screening-Kits,-Su."},{"key":"ref_311","unstructured":"Parent Project Muscular Dystrophy (2023, November 30). Duchenne Newborn Screening Milestone\u2014First State with Universal Newborn Screening for Duchenne! 5 July 2023. Available online: https:\/\/www.parentprojectmd.org\/duchenne-newborn-screening-milestone-first-state-with-universal-newborn-screening-for-duchenne\/."},{"key":"ref_312","doi-asserted-by":"crossref","first-page":"252","DOI":"10.1002\/jgc4.1480","article-title":"A qualitative assessment of parental experiences with false-positive newborn screening for Krabbe disease","volume":"31","author":"Peterson","year":"2022","journal-title":"J. Genet. Couns."},{"key":"ref_313","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1016\/j.jpeds.2021.11.003","article-title":"Utility of repeat testing for congenital hypothyroidism in infants with very low birth weight","volume":"242","author":"Rose","year":"2022","journal-title":"J. Pediatr."},{"key":"ref_314","doi-asserted-by":"crossref","first-page":"129","DOI":"10.3233\/JND-230082","article-title":"Parental experiences with newborn screening and gene replacement therapy for spinal muscular atrophy","volume":"11","author":"Meyer","year":"2024","journal-title":"J. Neuromuscul. Dis."},{"key":"ref_315","unstructured":"Oklahoma State Department of Health (2023, December 03). OSDH Temporarily Sends Newborn Screening to Top National Lab, Available online: https:\/\/oklahoma.gov\/health\/news---events\/newsroom\/2021\/march\/osdh-temporarily-sends-newborn-screening-to-top-national-lab.html."},{"key":"ref_316","unstructured":"Branham, D. (2023, November 30). Outsourced Newborn Screenings Return to Oklahoma Public Health Lab Amid Move to Stillwater. The Oklahoman. Available online: https:\/\/www.oklahoman.com\/story\/news\/2021\/06\/01\/stillwater-oklahoma-public-health-lab-newborn-screenings-return\/5291738001\/."},{"key":"ref_317","unstructured":"Blevins, J. (2023, November 30). Newborn Screening Tests Have Improved, but Families Have Suffered from False Positives. The Oklahoman. Available online: https:\/\/www.oklahoman.com\/story\/opinion\/2023\/04\/17\/positive-action-good-news-for-newborn-testing-but-it-took-two-years\/70047467007\/."},{"key":"ref_318","unstructured":"Oklahoma Senate (2023, November 30). Bill Updating Newborn Screening Guidelines Signed into Law, Available online: https:\/\/oksenate.gov\/press-releases\/bill-updating-newborn-screening-guidelines-signed-law."},{"key":"ref_319","unstructured":"Oregon.gov (2023, December 05). Oregon Health Authority, Newborn Screening, Oregon State Public Health Laboratory. Newborn Screening Program Updates, Available online: https:\/\/www.oregon.gov\/oha\/PH\/LABORATORYSERVICES\/NEWBORNSCREENING\/Pages\/newborn-screening-news.aspx."},{"key":"ref_320","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1002\/ajmg.c.31998","article-title":"Newborn screening for Fabry disease in Oregon: Approaching the iceberg of A143T and variants of uncertain significance","volume":"190","author":"Viall","year":"2022","journal-title":"Am. J. Med. Genet. C Semin. Med. Genet."},{"key":"ref_321","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1159\/000508075","article-title":"Outcome of newborn screening for congenital adrenal hyperplasia at two time points","volume":"93","author":"Eshragh","year":"2020","journal-title":"Horm. Res. Paediatr."},{"key":"ref_322","unstructured":"Pennsylvania Bulletin (2023, December 07). Newborn Screening Acts and Regulations, Available online: https:\/\/www.health.pa.gov\/topics\/programs\/Newborn-Screening\/Pages\/Acts-Regulations.aspx."},{"key":"ref_323","doi-asserted-by":"crossref","unstructured":"Ficicioglu, C., Ahrens-Nicklas, R.C., Barch, J., Cuddapah, S.R., DiBoscio, B.S., DiPerna, J.C., Gordon, P.L., Henderson, N., Menello, C., and Luongo, N. (2020). Newborn screening for Pompe disease: Pennsylvania experience. Int. J. Neonatal Screen., 6.","DOI":"10.3390\/ijns6040089"},{"key":"ref_324","doi-asserted-by":"crossref","unstructured":"Priestley, J.R.C., Adang, L.A., Drewes Williams, S., Lichter-Konecki, U., Menello, C., Engelhardt, N.M., DiPerna, J.C., DiBoscio, B., Ahrens-Nicklas, R.C., and Edmondson, A.C. (2022). Newborn screening for X-linked adrenoleukodystrophy: Review of data and outcomes in Pennsylvania. Int. J. Neonatal Screen., 8.","DOI":"10.3390\/ijns8020024"},{"key":"ref_325","unstructured":"State of Rhode Island Department of Health (2023, December 07). Newborn Blood Screening, Available online: https:\/\/health.ri.gov\/newbornscreening\/blood\/."},{"key":"ref_326","unstructured":"SCDHEC.gov (2023, December 07). Newborn Screening, Available online: https:\/\/scdhec.gov\/health-professionals\/health-services-facilities\/lab-certification-services\/newborn-screening."},{"key":"ref_327","doi-asserted-by":"crossref","first-page":"21501319231190274","DOI":"10.1177\/21501319231190274","article-title":"Providers\u2019 perspectives related to parents\u2019 choice of pediatric provider of record and newborn screening: A qualitative study","volume":"14","author":"Lowe","year":"2023","journal-title":"J. Prim. Care Community Health"},{"key":"ref_328","unstructured":"South Dakota Department of Health (2023, December 07). Newborn Screening Advisory Committee, Available online: https:\/\/doh.sd.gov\/topics\/maternal-child-health\/pregnancy-early-childhood\/newborn\/newborn-screening\/newborn-screening-advisory-committee\/."},{"key":"ref_329","first-page":"509","article-title":"The state of newborn screening in South Dakota","volume":"75","author":"Boyd","year":"2022","journal-title":"S. D. Med."},{"key":"ref_330","doi-asserted-by":"crossref","unstructured":"Lechner, C., Rumpler, M., Dorley, M.C., Li, Y., Ingram, A., and Fryman, H. (2022). Developing an online dashboard to visualize performance data-Tennessee newborn screening experience. Int. J. Neonatal Screen., 8.","DOI":"10.3390\/ijns8030049"},{"key":"ref_331","unstructured":"Every Life Foundation for Rare Diseases (2023, November 27). Texas Passes Life-Saving Newborn Screening Legislation. Available online: https:\/\/everylifefoundation.org\/texas-passes-life-saving-newborn-screening-legislation\/."},{"key":"ref_332","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1002\/ajmg.b.32804","article-title":"The association between newborn screening analytes as measured on a second screen and childhood autism in a Texas Medicaid population","volume":"183","author":"Langlois","year":"2020","journal-title":"Am. J. Med. Genet. B Neuropsychiatr. Genet."},{"key":"ref_333","doi-asserted-by":"crossref","first-page":"S16","DOI":"10.1016\/S1096-7192(21)00110-4","article-title":"Impact of COVID-19 on newborn screening in South Texas","volume":"132","author":"Ward","year":"2021","journal-title":"Mol. Genet. Metab."},{"key":"ref_334","doi-asserted-by":"crossref","unstructured":"Del Valle Penella, A., Miller, J., Rochat, R., and Demmler-Harrison, G. (2023). Utility of dried blood spots for the diagnosis of congenital cytomegaloviruses within the first 21 days of life in a single center. Int. J. Neonatal Screen., 9.","DOI":"10.3390\/ijns9030044"},{"key":"ref_335","unstructured":"(2023, December 10). Utah Newborn Screening. What Is Newborn Screening?, Available online: https:\/\/newbornscreening.health.utah.gov\/."},{"key":"ref_336","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1097\/JPN.0000000000000525","article-title":"Newborn screening knowledge and attitudes among midwives and out-of-hospital-birth parents","volume":"34","author":"Coupal","year":"2020","journal-title":"J. Perinat. Neonatal Nurs."},{"key":"ref_337","doi-asserted-by":"crossref","first-page":"100899","DOI":"10.1016\/j.spen.2021.100899","article-title":"Spinal muscular atrophy treatments, newborn screening, and the creation of a neurogenetics urgency","volume":"38","author":"Butterfield","year":"2021","journal-title":"Semin. Pediatr. Neurol."},{"key":"ref_338","doi-asserted-by":"crossref","unstructured":"Jones, D., Shao, J., Wallis, H., Johansen, C., Hart, K., Pasquali, M., Gouripeddi, R., and Rohrwasser, A. (2021). Towards a newborn screening common data model: The Utah newborn screening data model. Int. J. Neonatal Screen., 7.","DOI":"10.3390\/ijns7040070"},{"key":"ref_339","doi-asserted-by":"crossref","first-page":"767","DOI":"10.1038\/s41436-020-01058-w","article-title":"Methods and feasibility study for exome sequencing as a universal second-tier test in newborn screening","volume":"23","author":"Sant","year":"2021","journal-title":"Genet. Med."},{"key":"ref_340","doi-asserted-by":"crossref","unstructured":"Ruiz-Schultz, N., Asay, B., and Rohrwasser, A. (2021). Scalable newborn screening solutions: Bioinformatics and next-generation sequencing. Int. J. Neonatal Screen., 7.","DOI":"10.3390\/ijns7040063"},{"key":"ref_341","doi-asserted-by":"crossref","unstructured":"Conway, M., Vuong, T.T., Hart, K., Rohrwasser, A., and Eilbeck, K. (2022). Pain points in parents\u2019 interactions with newborn screening systems: A qualitative study. BMC Pediatr., 22.","DOI":"10.1186\/s12887-022-03160-1"},{"key":"ref_342","doi-asserted-by":"crossref","unstructured":"Prinzi, J., Pasquali, M., Hobert, J.A., Palmquist, R., Wong, K.N., Francis, S., and De Biase, I. (2023). Diagnosing X-linked adrenoleukodystrophy after implementation of newborn screening: A reference laboratory perspective. Int. J. Neonatal Screen., 9.","DOI":"10.3390\/ijns9040064"},{"key":"ref_343","unstructured":"Montgomery, A. (2023, December 10). Newborn Testing Could See Two More Health Conditions Added to the List. WCAX 3. Available online: https:\/\/www.wcax.com\/2023\/06\/29\/newborn-testing-could-see-two-more-health-conditions-added-list\/."},{"key":"ref_344","doi-asserted-by":"crossref","first-page":"100772","DOI":"10.1016\/j.cppeds.2020.100772","article-title":"Endocrine components of newborn screening","volume":"50","author":"Russell","year":"2020","journal-title":"Curr. Probl. Pediatr. Adolesc. Health Care"},{"key":"ref_345","unstructured":"WAVY.com (2023, December 26). 2 Disorders Added to Newborn Screening Program. Available online: https:\/\/www.wavy.com\/news\/virginia\/2-disorders-added-to-va-newborn-screening-program\/."},{"key":"ref_346","unstructured":"Washington State Department of Health (2023, December 07). Newborn Screening, Available online: https:\/\/doh.wa.gov\/you-and-your-family\/infants-and-children\/newborn-screening."},{"key":"ref_347","doi-asserted-by":"crossref","unstructured":"Vasquez-Loarte, T., Thompson, J.D., and Merritt, J.L. (2020). Considering proximal urea cycle disorders in expanded newborn screening. Int. J. Neonatal Screen., 6.","DOI":"10.3390\/ijns6040077"},{"key":"ref_348","doi-asserted-by":"crossref","first-page":"204","DOI":"10.1016\/j.jpeds.2019.09.036","article-title":"Newborn screening for mucopolysaccharidoses: Results of a pilot study with 100,000 dried blood spots","volume":"216","author":"Scott","year":"2020","journal-title":"J. Pediatr."},{"key":"ref_349","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1016\/j.ymgme.2022.06.006","article-title":"A rapid and non-invasive proteomic analysis using DBS and buccal swab for multiplexed second-tier screening of Pompe disease and Mucopolysaccharidosis type I","volume":"136","author":"Zhang","year":"2022","journal-title":"Mol. Genet. Metab."},{"key":"ref_350","unstructured":"(2023, December 10). WV-DHHR. OMCFH\/Newborn Screening Home Page. Available online: https:\/\/www.wvdhhr.org\/nbms\/."},{"key":"ref_351","doi-asserted-by":"crossref","unstructured":"Wiener, R.C. (2022). Newborn genetic testing in the United States and access to needed specialist care, National Survey of Children\u2019s Health, 2020: A cross-sectional study. PLoS ONE, 17.","DOI":"10.1371\/journal.pone.0279352"},{"key":"ref_352","doi-asserted-by":"crossref","unstructured":"Furnier, S.M., Durkin, M.S., and Baker, M.W. (2020). Translating molecular technologies into routine newborn screening practice. Int. J. Neonatal Screen., 6, Erratum in Int. J. Neonatal Screen. 2021, 7.","DOI":"10.3390\/ijns7040066"},{"key":"ref_353","doi-asserted-by":"crossref","first-page":"2664","DOI":"10.1038\/s41372-020-00895-6","article-title":"Thyroid-stimulating hormone reference ranges for moderate-to-late preterm infants","volume":"41","author":"Kaluarachchi","year":"2021","journal-title":"J. Perinatol."},{"key":"ref_354","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1016\/j.jpeds.2021.06.067","article-title":"Thyroid hormone function in small for gestational age term newborns","volume":"238","author":"Kaluarachchi","year":"2021","journal-title":"J. Pediatr."},{"key":"ref_355","doi-asserted-by":"crossref","first-page":"243","DOI":"10.3233\/NPM-210910","article-title":"Lack of association between gestational age adjusted TSH percentiles and neurodevelopmental outcomes among preterm infants","volume":"15","author":"Nicksic","year":"2021","journal-title":"J. Neonatal Perinatal Med."},{"key":"ref_356","doi-asserted-by":"crossref","first-page":"dgaa371","DOI":"10.1210\/clinem\/dgaa371","article-title":"Application of principal component analysis to newborn screening for congenital adrenal hyperplasia","volume":"105","author":"Lasarev","year":"2020","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_357","doi-asserted-by":"crossref","unstructured":"Matharu, P.K., Held, P.K., and Allen, D.B. (2022). Multiple 17-OHP cutoff co-variates fail to improve 21-hydroxylase deficiency screening accuracy. Int. J. Neonatal Screen., 8.","DOI":"10.3390\/ijns8040057"},{"key":"ref_358","doi-asserted-by":"crossref","unstructured":"Farrell, P.M., Rock, M.J., and Baker, M.W. (2020). The impact of the CFTR gene discovery on cystic fibrosis diagnosis, counseling, and preventive therapy. Genes, 11.","DOI":"10.3390\/genes11040401"},{"key":"ref_359","doi-asserted-by":"crossref","first-page":"778","DOI":"10.1002\/ppul.26253","article-title":"Refinement of newborn screening for cystic fibrosis with next generation sequencing","volume":"58","author":"Rock","year":"2023","journal-title":"Pediatr. Pulmonol."},{"key":"ref_360","doi-asserted-by":"crossref","first-page":"3342","DOI":"10.1002\/ppul.26621","article-title":"Cystic fibrosis screen-positive neonates with one pathogenic variant still warrant sweat testing","volume":"58","author":"Rock","year":"2023","journal-title":"Pediatr. Pulmonol."},{"key":"ref_361","doi-asserted-by":"crossref","first-page":"492","DOI":"10.1016\/j.jcf.2020.06.002","article-title":"Newborn screening alone insufficient to improve pulmonary outcomes for cystic fibrosis","volume":"20","author":"Barreda","year":"2021","journal-title":"J. Cyst. Fibros."},{"key":"ref_362","doi-asserted-by":"crossref","first-page":"595","DOI":"10.1007\/s10875-020-00956-7","article-title":"Newborn Screening for Severe Combined Immunodeficiency: 10-Year Experience at a Single Referral Center (2009\u20132018)","volume":"41","author":"Thorsen","year":"2021","journal-title":"J. Clin. Immunol."},{"key":"ref_363","doi-asserted-by":"crossref","unstructured":"Cogley, M.F., Wiberley-Bradford, A.E., Mochal, S.T., Dawe, S.J., Piro, Z.D., and Baker, M.W. (2021). Newborn screening for severe combined immunodeficiency using the multiple of the median values of T-cell receptor excision circles. Int. J. Neonatal Screen., 7.","DOI":"10.3390\/ijns7030043"},{"key":"ref_364","doi-asserted-by":"crossref","unstructured":"Atkins, A.E., Cogley, M.F., and Baker, M.W. (2021). Newborn screening for severe combined immunodeficiency: Do preterm infants require special consideration?. Int. J. Neonatal Screen., 7.","DOI":"10.3390\/ijns7030040"},{"key":"ref_365","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1016\/j.nmd.2021.07.398","article-title":"Newborn screening for spinal muscular atrophy: The Wisconsin first year experience","volume":"32","author":"Baker","year":"2022","journal-title":"Neuromuscul. Disord."},{"key":"ref_366","doi-asserted-by":"crossref","unstructured":"Teber, T.A., Conti, B.J., Haynes, C.A., Hietala, A., and Baker, M.W. (2022). Newborn screen for X-linked adrenoleukodystrophy using flow injection tandem mass spectrometry in negative ion mode. Int. J. Neonatal Screen., 8.","DOI":"10.3390\/ijns8020027"},{"key":"ref_367","unstructured":"Wyoming Department of Health (2023, December 26). Maternal and Child Health Unit. Newborn Screening Program, Available online: https:\/\/health.wyo.gov\/publichealth\/mch\/newbornscreening\/."},{"key":"ref_368","doi-asserted-by":"crossref","unstructured":"De Souza, A., Wolan, V., Battochio, A., Christian, S., Hume, S., Johner, G., Lilley, M., Ridsdale, R., Schnabl, K., and Tran, C. (2019). Newborn screening: Current status in Alberta, Canada. Int. J. Neonatal Screen., 5.","DOI":"10.3390\/ijns5040037"},{"key":"ref_369","doi-asserted-by":"crossref","unstructured":"Niri, F., Nicholls, J., Baptista Wyatt, K., Walker, C., Price, T., Kelln, R., Hume, S., Parboosingh, J., Lilley, M., and Kolski, H. (2023). Alberta spinal muscular atrophy newborn screening-results from year 1 pilot project. Int. J. Neonatal Screen., 9.","DOI":"10.3390\/ijns9030042"},{"key":"ref_370","doi-asserted-by":"crossref","unstructured":"Hoang, S.C., Blumenschein, P., Lilley, M., Olshaski, L., Bruce, A., Wright, N.A.M., Ridsdale, R., and Christian, S. (2023). Secondary reporting of G6PD deficiency on newborn screening. Int. J. Neonatal Screen., 9.","DOI":"10.3390\/ijns9020018"},{"key":"ref_371","unstructured":"(2023, December 26). BC Gov News. B.C. Newborn Screening Expands; Early Detection Improves Quality of Life, Available online: https:\/\/news.gov.bc.ca\/releases\/2022HLTH0197-001536."},{"key":"ref_372","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1016\/j.jpeds.2019.12.057","article-title":"Clinical impact and cost efficacy of newborn screening for congenital adrenal hyperplasia","volume":"220","author":"Fox","year":"2020","journal-title":"J. Pediatr."},{"key":"ref_373","doi-asserted-by":"crossref","unstructured":"Sinclair, G., McMahon, V., Schellenberg, A., Nelson, T.N., Chilvers, M., and Vallance, H. (2020). Performance of a three-tier (IRT-DNA-IRT) cystic fibrosis screening algorithm in British Columbia. Int. J. Neonatal Screen., 6.","DOI":"10.3390\/ijns6020046"},{"key":"ref_374","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.jmsacl.2021.03.001","article-title":"Analysis of 2-methylcitric acid, methylmalonic acid, and total homocysteine in dried blood spots by LC-MS\/MS for application in the newborn screening laboratory: A dual derivatization approach","volume":"20","author":"Dubland","year":"2021","journal-title":"J. Mass Spectrom. Adv. Clin. Lab."},{"key":"ref_375","unstructured":"(2023, December 26). Manitoba. Province Announces Expansion of Newborn Screening Program, Available online: https:\/\/news.gov.mb.ca\/news\/index.html?item=55077&posted=2022-06-08."},{"key":"ref_376","doi-asserted-by":"crossref","first-page":"100666","DOI":"10.1016\/j.ymgmr.2020.100666","article-title":"Outcome of the glutaric aciduria type 1 (GA1) newborn screening program in Manitoba: 1980\u20132020","volume":"25","author":"Mhanni","year":"2020","journal-title":"Mol. Genet. Metab. Rep."},{"key":"ref_377","first-page":"1","article-title":"Development of a multiplexed PCR assay to identify pathogenic variants causing severe combined immunodeficiency (SCID) in Manitoba","volume":"4","author":"Giffin","year":"2021","journal-title":"Univ. Manit. J. Med."},{"key":"ref_378","unstructured":"Miele, S. Personal communication."},{"key":"ref_379","unstructured":"Pinto, V. (2023, December 26). Funding Bolsters Effort to Bring Newborn Screening to Eastern Canada. SMA News Today. Available online: https:\/\/smanewstoday.com\/news\/muscular-dystrophy-canada-novartis-maritime-newborn-sma-screening-program\/."},{"key":"ref_380","doi-asserted-by":"crossref","first-page":"2711","DOI":"10.1002\/ajmg.a.63369","article-title":"Epidemiology of spinal muscular atrophy caused by SMN1 deletions in Maritime Canada","volume":"191","author":"Dyack","year":"2023","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_381","doi-asserted-by":"crossref","unstructured":"Mador-House, R., Liu, Z., and Dyack, S. (2021). Detection of early onset carnitine palmitoyltransferase II deficiency by newborn screening: Should CPT II deficiency be a primary disease target?. Int. J. Neonatal Screen., 7.","DOI":"10.3390\/ijns7030055"},{"key":"ref_382","doi-asserted-by":"crossref","first-page":"1205","DOI":"10.1007\/s00103-023-03786-1","article-title":"The Ontario newborn screening program: A novel referral center model","volume":"66","author":"Schulze","year":"2023","journal-title":"Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz"},{"key":"ref_383","doi-asserted-by":"crossref","first-page":"1743","DOI":"10.1093\/ibd\/izz296","article-title":"Serum newborn screening blood metabolites are not associated with childhood-onset inflammatory bowel disease: A population-based matched case-control study","volume":"26","author":"Chakraborty","year":"2020","journal-title":"Inflamm. Bowel Dis."},{"key":"ref_384","doi-asserted-by":"crossref","first-page":"439","DOI":"10.46747\/cfp.6706439","article-title":"Primary care providers\u2019 role in newborn screening result notification for cystic fibrosis","volume":"67","author":"Hayeems","year":"2021","journal-title":"Can. Fam. Physician."},{"key":"ref_385","doi-asserted-by":"crossref","first-page":"e144","DOI":"10.46747\/cfp.6706e144","article-title":"Newborn screening for cystic fibrosis: Role of primary care providers in caring for infants with positive screening results","volume":"67","author":"Carroll","year":"2021","journal-title":"Can. Fam. Physician."},{"key":"ref_386","doi-asserted-by":"crossref","first-page":"e2021052822","DOI":"10.1542\/peds.2021-052822","article-title":"Maximizing benefits and minimizing harms: Diagnostic uncertainty arising from newborn screening","volume":"148","author":"Chakraborty","year":"2021","journal-title":"Pediatrics"},{"key":"ref_387","doi-asserted-by":"crossref","first-page":"835","DOI":"10.1080\/14767058.2019.1615048","article-title":"Association between newborn screening analyte profiles and infant mortality","volume":"34","author":"Potter","year":"2021","journal-title":"J. Matern. Fetal Neonatal Med."},{"key":"ref_388","doi-asserted-by":"crossref","first-page":"504","DOI":"10.1017\/cjn.2020.229","article-title":"Newborn screening for spinal muscular atrophy: Ontario testing and follow-up recommendations","volume":"48","author":"McMillan","year":"2021","journal-title":"Can. J. Neurol. Sci."},{"key":"ref_389","doi-asserted-by":"crossref","first-page":"E802","DOI":"10.9778\/cmajo.20200294","article-title":"Estimate of the contemporary live-birth prevalence of recurrent22q11.2 deletions: A cross-sectional analysis from population-based newborn screening","volume":"9","author":"Blagojevic","year":"2021","journal-title":"CMAJ Open"},{"key":"ref_390","doi-asserted-by":"crossref","first-page":"821","DOI":"10.1017\/cjn.2021.231","article-title":"Ontario newborn screening for spinal muscular atrophy: The first year","volume":"49","author":"Kernohan","year":"2022","journal-title":"Can. J. Neurol. Sci."},{"key":"ref_391","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1111\/acer.14766","article-title":"Quantitation of phosphatidylethanols in dried blood spots to determine rates of prenatal alcohol exposure in Ontario","volume":"46","author":"DiBattista","year":"2022","journal-title":"Alcohol Clin. Exp. Res."},{"key":"ref_392","doi-asserted-by":"crossref","first-page":"638","DOI":"10.1210\/clinem\/dgab798","article-title":"Transient vs permanent congenital hypothyroidism in Ontario, Canada: Predictive factors and scoring system","volume":"107","author":"Marr","year":"2022","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_393","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1093\/jalm\/jfac102","article-title":"An approach for evaluating potential screening thresholds using biomarker population distribution and analytical imprecision","volume":"8","author":"Henderson","year":"2023","journal-title":"J. Appl. Lab. Med."},{"key":"ref_394","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1016\/j.clinbiochem.2022.03.010","article-title":"Biotinidase activity is affected by both seasonal temperature and filter collection cards","volume":"115","author":"Henderson","year":"2023","journal-title":"Clin. Biochem."},{"key":"ref_395","doi-asserted-by":"crossref","unstructured":"Liang, N.S.Y., Watts-Dickens, A., Chitayat, D., Babul-Hirji, R., Chakraborty, P., and Hayeems, R.Z. (2023). Parental preferences for expanded newborn screening: What are the limits?. Children, 10.","DOI":"10.3390\/children10081362"},{"key":"ref_396","doi-asserted-by":"crossref","unstructured":"Auray-Blais, C., Boutin, M., Lavoie, P., and Maranda, B. (2021). Neonatal urine screening program in the Province of Quebec: Technological upgrade from thin layer chromatography to tandem mass spectrometry. Int. J. Neonatal Screen., 7.","DOI":"10.3390\/ijns7010018"},{"key":"ref_397","doi-asserted-by":"crossref","first-page":"887371","DOI":"10.3389\/fendo.2022.887371","article-title":"Benefits of newborn screening for vitamin D-dependant Rickets Type 1A in a founder population","volume":"13","author":"Fortin","year":"2022","journal-title":"Front. Endocrinol."},{"key":"ref_398","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1002\/jmd2.12399","article-title":"A case of hyperlysinemia identified by urine newborn screening","volume":"64","author":"Yeganeh","year":"2023","journal-title":"JIMD Rep."},{"key":"ref_399","doi-asserted-by":"crossref","first-page":"370","DOI":"10.1182\/blood-2023-189707","article-title":"Positive impacts of the universal newborn screening program on the outcome of children with sickle cell disease in the Province of Quebec: A Retrospective Cohort Study","volume":"142","author":"Kazadi","year":"2023","journal-title":"Blood"},{"key":"ref_400","unstructured":"(2023, December 26). Saskatchewan. Saskatchewan Expanding Newborn Screening Program. Available online: https:\/\/www.saskatchewan.ca\/government\/news-and-media\/2022\/february\/23\/saskatchewan-expanding-newborn-screening-program."},{"key":"ref_401","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1007\/s12687-011-0076-7","article-title":"Working Group of the Asia Pacific Society for Human Genetics on Consolidating Newborn Screening Efforts in the Asia Pacific Region. Consolidating newborn screening efforts in the Asia Pacific region: Networking and shared education","volume":"3","author":"Padilla","year":"2012","journal-title":"J. Community Genet."},{"key":"ref_402","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1016\/j.ymgmr.2018.05.003","article-title":"Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening","volume":"16","author":"Shibata","year":"2018","journal-title":"Mol. Genet. Metab. Rep."},{"key":"ref_403","doi-asserted-by":"crossref","unstructured":"Wiley, V., Webster, D., and Loeber, G. (2019). Screening pathways through China, the Asia Pacific Region, the World. Int. J. Neonatal Screen., 5.","DOI":"10.3390\/ijns5030026"},{"key":"ref_404","doi-asserted-by":"crossref","first-page":"S22","DOI":"10.1016\/j.pedneo.2022.11.001","article-title":"The modern face of newborn screening","volume":"64","author":"Chien","year":"2023","journal-title":"Pediatr. Neonatol."},{"key":"ref_405","unstructured":"Australian Government (2023, May 08). Department of Health and Aging Care. Newborn Bloodspot Screening, Available online: https:\/\/www.health.gov.au\/our-work\/newborn-bloodspot-screening."},{"key":"ref_406","first-page":"292","article-title":"Newborn bloodspot screening policy framework for Australia","volume":"8","author":"Maxwell","year":"2015","journal-title":"Australas. Med. J."},{"key":"ref_407","first-page":"214","article-title":"Review of current international decision-making processes for newborn screening: Lessons for Australia","volume":"3","author":"Lister","year":"2015","journal-title":"Front. Public Health"},{"key":"ref_408","doi-asserted-by":"crossref","unstructured":"Shih, S.T.F., Keller, E., Wiley, V., Wong, M., Farrar, M.A., and Chambers, G.M. (2022). Economic evaluation of newborn screening for severe combined immunodeficiency. Int. J. Neonatal Screen., 8.","DOI":"10.3390\/ijns8030044"},{"key":"ref_409","doi-asserted-by":"crossref","unstructured":"Shih, S.T.F., Keller, E., Wiley, V., Farrar, M.A., Wong, M., and Chambers, G.M. (2022). Modelling the cost-effectiveness and budget impact of a newborn screening program for spinal muscular atrophy and severe combined immunodeficiency. Int. J. Neonatal Screen., 8.","DOI":"10.3390\/ijns8030045"},{"key":"ref_410","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1038\/s41436-019-0673-0","article-title":"The implementation of newborn screening for spinal muscular atrophy: The Australian experience","volume":"22","author":"Kariyawasam","year":"2020","journal-title":"Genet. Med."},{"key":"ref_411","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1111\/dmcn.15117","article-title":"Integrating newborn screening for spinal muscular atrophy into health care systems: An Australian pilot programme","volume":"64","author":"Kariyawasam","year":"2022","journal-title":"Dev. Med. Child Neurol."},{"key":"ref_412","doi-asserted-by":"crossref","first-page":"100742","DOI":"10.1016\/j.eclinm.2021.100742","article-title":"\u201cWe needed this\u201d: Perspectives of parents and healthcare professionals involved in a pilot newborn screening program for spinal muscular atrophy","volume":"33","author":"Kariyawasam","year":"2021","journal-title":"eClinicalMedicine"},{"key":"ref_413","doi-asserted-by":"crossref","first-page":"1296","DOI":"10.1136\/jnnp-2021-326344","article-title":"Newborn screening for spinal muscular atrophy with disease-modifying therapies: A cost-effectiveness analysis","volume":"92","author":"Shih","year":"2021","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"ref_414","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1016\/S2352-4642(22)00342-X","article-title":"Newborn screening for spinal muscular atrophy in Australia: A non-randomised cohort study","volume":"7","author":"Kariyawasam","year":"2023","journal-title":"Lancet Child Adolesc. Health"},{"key":"ref_415","doi-asserted-by":"crossref","first-page":"1095600","DOI":"10.3389\/fgene.2023.1095600","article-title":"Technical feasibility of newborn screening for spinal muscular atrophy by next-generation DNA sequencing","volume":"14","author":"Shum","year":"2023","journal-title":"Front. Genet."},{"key":"ref_416","doi-asserted-by":"crossref","first-page":"955","DOI":"10.1111\/jpc.16425","article-title":"Outcomes of lowered newborn screening thresholds for congenital hypothyroidism","volume":"59","author":"Yu","year":"2023","journal-title":"J. Paediatr. Child Health"},{"key":"ref_417","doi-asserted-by":"crossref","first-page":"1551","DOI":"10.1515\/cclm-2022-0403","article-title":"Fifty years of newborn screening for congenital hypothyroidism: Current status in Australasia and the case for harmonisation","volume":"60","author":"Huynh","year":"2022","journal-title":"Clin. Chem. Lab. Med."},{"key":"ref_418","doi-asserted-by":"crossref","unstructured":"Lai, F., Srinivasan, S., and Wiley, V. (2020). Evaluation of a two-tier screening pathway for congenital adrenal hyperplasia in the New South Wales newborn screening programme. Int. J. Neonatal Screen., 6.","DOI":"10.3390\/ijns6030063"},{"key":"ref_419","doi-asserted-by":"crossref","unstructured":"Greaves, R.F., Kumar, M., Mawad, N., Francescon, A., Le, C., O\u2019Connell, M., Chi, J., and Pitt, J. (2023). Best practice for identification of classical 21-hydroxylase deficiency should include 21 deoxycortisol analysis with appropriate isomeric steroid separation. Int. J. Neonatal Screen., 9.","DOI":"10.3390\/ijns9040058"},{"key":"ref_420","doi-asserted-by":"crossref","first-page":"19748","DOI":"10.1038\/s41598-022-24374-4","article-title":"Survival of people with cystic fibrosis in Australia","volume":"12","author":"Ruseckaite","year":"2022","journal-title":"Sci. Rep."},{"key":"ref_421","doi-asserted-by":"crossref","unstructured":"Estrella, J.F.G.L., Immanuel, J., Wiley, V., and Simmons, D. (2020). Newborn screening samples for diabetes research: An underused resource. Cells, 9.","DOI":"10.3390\/cells9102299"},{"key":"ref_422","doi-asserted-by":"crossref","first-page":"2536","DOI":"10.2337\/dc21-0327","article-title":"Effect of maternal metformin treatment in pregnancy on neonatal metabolism: Evidence from newborn metabolic screening","volume":"44","author":"Estrella","year":"2021","journal-title":"Diabetes Care"},{"key":"ref_423","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1016\/j.ymgme.2013.10.019","article-title":"Newborn screening for X-linked adrenoleukodystrophy: Further evidence high throughput screening is feasible","volume":"111","author":"Theda","year":"2014","journal-title":"Mol. Genet. Metab."},{"key":"ref_424","doi-asserted-by":"crossref","first-page":"15","DOI":"10.3233\/JND-221535","article-title":"Newborn screening for the diagnosis and treatment of Duchenne muscular dystrophy","volume":"10","author":"Farrar","year":"2023","journal-title":"J. Neuromuscul. Dis."},{"key":"ref_425","unstructured":"Ministers Department of Health and Aged Care (2024, February 03). More Rare Conditions Considered for Newborn Bloodspot Screening and New Treatment Option for Spinal Muscular Atrophy, Available online: https:\/\/www.health.gov.au\/ministers\/the-hon-mark-butler-mp\/media\/more-rare-conditions-considered-for-newborn-bloodspot-screening-and-new-treatment-option-for-spinal-muscular-atrophy."},{"key":"ref_426","doi-asserted-by":"crossref","unstructured":"Saich, R., Brown, R., Collicoat, M., Jenner, C., Primmer, J., Clancy, B., Holland, T., and Krinks, S. (2020). Is newborn screening the ultimate strategy to reduce diagnostic delays in Pompe disease? The parent and patient perspective. Int. J. Neonatal Screen., 6.","DOI":"10.3390\/ijns6010001"},{"key":"ref_427","doi-asserted-by":"crossref","first-page":"e2141911","DOI":"10.1001\/jamanetworkopen.2021.41911","article-title":"Feasibility of screening for chromosome 15 imprinting disorders in 16 579 newborns by using a novel genomic workflow","volume":"5","author":"Godler","year":"2022","journal-title":"JAMA Netw. Open"},{"key":"ref_428","doi-asserted-by":"crossref","first-page":"703","DOI":"10.1038\/s41431-023-01311-1","article-title":"Expanding the Australian newborn blood spot screening program using genomic sequencing: Do we want it and are we ready?","volume":"31","author":"White","year":"2023","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_429","doi-asserted-by":"crossref","unstructured":"Lynch, F., Best, S., Gaff, C., Downie, L., Archibald, A.D., Gyngell, C., Goranitis, I., Peters, R., Savulescu, J., and Lunke, S. (2024). Australian public perspectives on genomic newborn screening: Risks, benefits, and preferences for implementation. Int. J. Neonatal Screen., 10.","DOI":"10.21203\/rs.3.rs-3952524\/v1"},{"key":"ref_430","doi-asserted-by":"crossref","first-page":"101077","DOI":"10.1016\/j.gim.2024.101077","article-title":"Gene selection for genomic newborn screening: Moving towards consensus?","volume":"26","author":"Downie","year":"2024","journal-title":"Genet. Med."},{"key":"ref_431","doi-asserted-by":"crossref","first-page":"15","DOI":"10.3329\/bjnm.v25i1.59636","article-title":"Current status of newborn screening for the early diagnosis of congenital hypothyroidism in Bangladesh","volume":"25","author":"Islam","year":"2022","journal-title":"Bangladesh J. Nucl. Med."},{"key":"ref_432","unstructured":"Hasan, M. Personal communication."},{"key":"ref_433","doi-asserted-by":"crossref","unstructured":"Sumaia, S.N., Reshad, R.A.I., Tabassum, F., Mim, S.K., Mahmud, M.G.R., Faruque, C.M.O., and Miah, M.F. (2023). Present status of newborn screening in Bangladesh through the participation of health professionals. Clin. Res. Clin. Trials, 7, Available online: https:\/\/auctoresonline.org\/article\/present-status-of-newborn-screening-in-bangladesh-through-the-participation-of-health-professionals.","DOI":"10.5455\/jabet.2023.d149"},{"key":"ref_434","doi-asserted-by":"crossref","first-page":"e20210024","DOI":"10.1590\/2326-4594-jiems-2021-0024","article-title":"Current scenario and future direction of newborn screening and management program for phenylketonuria in Bangladesh","volume":"10","year":"2022","journal-title":"J. Inborn Errors Metab. Screen."},{"key":"ref_435","doi-asserted-by":"crossref","unstructured":"Sarker, S.K., Islam, M.T., Biswas, A., Bhuyan, G.S., Sultana, R., Sultana, N., Rakhshanda, S., Begum, M.N., Rahat, A., and Yeasmin, S. (2019). Age-specific cut-off values of amino acids and acylcarnitines for diagnosis of inborn errors of metabolism using liquid chromatography tandem mass spectrometry. BioMed Res. Int., 2019.","DOI":"10.1155\/2019\/3460902"},{"key":"ref_436","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1186\/s13023-018-0993-1","article-title":"Incidental screen positive findings in a prospective cohort study in Matlab, Bangladesh: Insights into expanded newborn screening for low-resource settings","volume":"14","author":"Murphy","year":"2019","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_437","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1080\/03630269.2020.1784755","article-title":"Umbilical cord blood screening for the detection of common deletional mutations of \u03b1-thalassemia in Bangladesh","volume":"44","author":"Anwar","year":"2020","journal-title":"Hemoglobin"},{"key":"ref_438","doi-asserted-by":"crossref","first-page":"em00795","DOI":"10.29333\/jcei\/11706","article-title":"Inheritance of \u03b2 hemoglobin gene mutation: Potential method of newborn screening of sickle cell anemia in Bangladesh","volume":"13","author":"Laura","year":"2022","journal-title":"J. Clin. Exp. Investig."},{"key":"ref_439","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1186\/s13023-021-01804-6","article-title":"Genetic counseling in the context of Bangladesh: Current scenario, challenges, and a framework for genetic service implementation","volume":"16","author":"Hosen","year":"2021","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_440","doi-asserted-by":"crossref","first-page":"100279","DOI":"10.1016\/j.ajogmf.2020.100279","article-title":"Cost-effectiveness of a gestational age metabolic algorithm for preterm and small-for-gestational-age classification","volume":"3","author":"Coyle","year":"2021","journal-title":"Am. J. Obstet. Gynecol. MFM"},{"key":"ref_441","doi-asserted-by":"crossref","first-page":"04021","DOI":"10.7189\/jogh.12.04021","article-title":"Machine learning prediction of gestational age from metabolic screening markers resistant to ambient temperature transportation: Facilitating use of this technology in low resource settings of South Asia and East Africa","volume":"12","author":"Sazawal","year":"2022","journal-title":"J. Glob. Health"},{"key":"ref_442","doi-asserted-by":"crossref","first-page":"e249997","DOI":"10.1136\/bcr-2022-249997","article-title":"Primary congenital hypothyroidism: Challenges in a low-income country without paediatric endocrinologist and universal newborn screening","volume":"16","author":"Bin","year":"2023","journal-title":"BMJ Case Rep."},{"key":"ref_443","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1007\/8904_2011_119","article-title":"Newborn screening for inborn errors of metabolism in mainland china: 30 years of experience","volume":"6","author":"Shi","year":"2012","journal-title":"JIMD Rep."},{"key":"ref_444","unstructured":"Screening Group of Neonatal Genetic Metabolic Disease, Special Committee of Birth Defects Prevention and Control, Chinese Preventive Medical Association, Gu, X., and Zhao, Z. (2023). Consensus on the organizational management and dry blood sample collection for neonatal inherited metabolic disease screening. Chin. J. Neonatol., 38, 321\u2013326."},{"key":"ref_445","unstructured":"Screening Group of Neonatal Genetic Metabolic Disease, Special Committee of Birth Defects Prevention and Control, Chinese Preventive Medical Association, and Zhao, Z. (2023). Consensus on diagnosis and treatment of inherited metabolic diseases by newborn screening. Chin. J. Neonatol., 38, 385\u2013394."},{"key":"ref_446","unstructured":"Screening Group of Neonatal Genetic Metabolic Disease, Special Committee of Birth Defects Prevention and Control, Chinese Preventive Medical Association, Newborn Genetic Metabolic Disease Screening Laboratory Quality Evaluation Professional Committee from Clinical Laboratory Center of National Health Commission, Zhao, Z., and Wang, Z. (2023). Consensus on laboratory testing technical guidelines of neonatal genetic metabolic disease screening. Chin. J. Neonatol., 38, 449\u2013454."},{"key":"ref_447","doi-asserted-by":"crossref","first-page":"801447","DOI":"10.3389\/fgene.2022.801447","article-title":"Expanded newborn screening for inherited metabolic disorders by tandem mass spectrometry in a northern Chinese population","volume":"13","author":"Zhang","year":"2022","journal-title":"Front. Genet."},{"key":"ref_448","doi-asserted-by":"crossref","unstructured":"Yu, M., Xu, J., Song, X., and Du, J. (2022). Cost-effectiveness analysis of newborn screening by tandem mass spectrometry in Shenzhen, China: Value and affordability of new screening technology. BMC Health Serv. Res., 22.","DOI":"10.1186\/s12913-022-08394-4"},{"key":"ref_449","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1177\/09691413211021621","article-title":"Newborn screening for inherited metabolic diseases using tandem mass spectrometry in China: Outcome and cost-utility analysis","volume":"29","author":"Zhao","year":"2022","journal-title":"J. Med. Screen."},{"key":"ref_450","doi-asserted-by":"crossref","first-page":"2699","DOI":"10.1038\/s41598-021-81897-y","article-title":"Spectrum analysis of inborn errors of metabolism for expanded newborn screening in a northwestern Chinese population","volume":"11","author":"Zhang","year":"2021","journal-title":"Sci. Rep."},{"key":"ref_451","doi-asserted-by":"crossref","first-page":"763222","DOI":"10.3389\/fgene.2021.763222","article-title":"Spectrum analysis of inherited metabolic disorders for expanded newborn screening in a central Chinese population","volume":"12","author":"Li","year":"2022","journal-title":"Front. Genet."},{"key":"ref_452","doi-asserted-by":"crossref","unstructured":"Du, Y., Wang, W., Liu, J., Zhang, Z., Zhao, Z., He, F., Yuan, S., and Wang, Z. (2020). National program for external quality assessment of Chinese newborn screening laboratories. Int. J. Neonatal Screen., 6.","DOI":"10.3390\/ijns6020038"},{"key":"ref_453","doi-asserted-by":"crossref","first-page":"2122","DOI":"10.1097\/CM9.0000000000002386","article-title":"Quality management of the newborn screening network: The Chinese experience","volume":"136","author":"Jin","year":"2023","journal-title":"Chin. Med. J."},{"key":"ref_454","doi-asserted-by":"crossref","first-page":"3000605211002999","DOI":"10.1177\/03000605211002999","article-title":"Improving quality management of newborn screening in southwest China","volume":"49","author":"Yu","year":"2021","journal-title":"J. Int. Med. Res."},{"key":"ref_455","doi-asserted-by":"crossref","unstructured":"He, F., Yang, R., Huang, X., Tian, Y., Pei, X., Bohn, M.K., Zou, L., Wang, Y., Li, H., and Wang, T. (2021). Reference standards for newborn screening of metabolic disorders by tandem mass spectrometry: A nationwide study on millions of Chinese neonatal populations. Front. Mol. Biosci., 8.","DOI":"10.3389\/fmolb.2021.719866"},{"key":"ref_456","doi-asserted-by":"crossref","first-page":"e2152","DOI":"10.1002\/mgg3.2152","article-title":"Incidence and genetic variants of inborn errors of metabolism identified through newborn screening: A 7-year study in eastern coastal areas of China","volume":"11","author":"Men","year":"2023","journal-title":"Mol. Genet. Genomic Med."},{"key":"ref_457","doi-asserted-by":"crossref","first-page":"278","DOI":"10.1515\/jpem-2022-0543","article-title":"Newborn screening for inborn errors of metabolism in a northern Chinese population","volume":"36","author":"Liu","year":"2023","journal-title":"J. Pediatr. Endocrinol. Metab."},{"key":"ref_458","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1016\/j.cca.2020.06.010","article-title":"Newborn screening for isovaleric acidemia in Quanzhou, China","volume":"509","author":"Lin","year":"2020","journal-title":"Clin. Chim. Acta"},{"key":"ref_459","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1186\/s13023-021-02126-3","article-title":"Biochemical and genetic characteristics of patients with primary carnitine deficiency identified through newborn screening","volume":"16","author":"Lin","year":"2021","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_460","doi-asserted-by":"crossref","first-page":"823687","DOI":"10.3389\/fgene.2022.823687","article-title":"Newborn screening for mitochondrial carnitine-acylcarnitine cycle disorders in Zhejiang Province, China","volume":"13","author":"Zhou","year":"2022","journal-title":"Front. Genet."},{"key":"ref_461","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1016\/j.cca.2020.04.039","article-title":"Screening 3.4 million newborns for primary carnitine deficiency in Zhejiang Province, China","volume":"507","author":"Lin","year":"2020","journal-title":"Clin. Chim. Acta"},{"key":"ref_462","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1016\/j.cca.2020.11.005","article-title":"Newborn screening for primary carnitine deficiency in Quanzhou, China","volume":"512","author":"Lin","year":"2021","journal-title":"Clin. Chim. Acta"},{"key":"ref_463","doi-asserted-by":"crossref","first-page":"686137","DOI":"10.3389\/fgene.2021.686137","article-title":"Newborn screening and genetic analysis identify six novel genetic variants for primary carnitine deficiency in Ningbo Area, China","volume":"12","author":"Yang","year":"2021","journal-title":"Front. Genet."},{"key":"ref_464","doi-asserted-by":"crossref","first-page":"290","DOI":"10.3724\/zdxbyxb-2022-0218","article-title":"Screening for newborn fatty acid oxidation disorders in Chongqing and the follow-up of confirmed children","volume":"51","author":"Chen","year":"2022","journal-title":"J. Zhejiang Univ."},{"key":"ref_465","doi-asserted-by":"crossref","unstructured":"Tong, F., Zhang, Y., Chen, C., Zhu, L., Lu, Y., Zhang, Z., Chen, T., Yan, J., Zheng, J., and Zhao, X. (2023). Long-term prognosis of 35 patients with methionine adenosyltransferase deficiency based on newborn screening in China. Front. Cell Dev. Biol., 10.","DOI":"10.3389\/fcell.2022.1059680"},{"key":"ref_466","doi-asserted-by":"crossref","first-page":"757424","DOI":"10.3389\/fped.2021.757424","article-title":"Quantification of differential metabolites in dried blood spots using second-tier testing for SCADD\/IBDD disorders based on large-scale newborn screening in a Chinese population","volume":"9","author":"Zhou","year":"2021","journal-title":"Front. Pediatr."},{"key":"ref_467","first-page":"430","article-title":"Study on newborn screening for Duchenne muscular dystrophy and diagnostic strategy","volume":"38","author":"Zhonghua","year":"2021","journal-title":"Chin. J. Neonatol."},{"key":"ref_468","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1016\/j.cca.2022.11.024","article-title":"Newborn screening and genomic analysis of Duchenne muscular dystrophy in Henan, China","volume":"539","author":"Jia","year":"2023","journal-title":"Clin. Chim. Acta"},{"key":"ref_469","doi-asserted-by":"crossref","first-page":"814461","DOI":"10.3389\/fped.2022.814461","article-title":"Establishment of cutoff values for newborn screening of six lysosomal storage disorders by tandem mass spectrometry","volume":"10","author":"Li","year":"2022","journal-title":"Front. Pediatr."},{"key":"ref_470","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1007\/s12519-022-00522-8","article-title":"Application of next generation sequencing in the screening of monogenic diseases in China, 2021: A consensus among Chinese newborn screening experts","volume":"18","author":"Tong","year":"2022","journal-title":"World J. Pediatr."},{"key":"ref_471","doi-asserted-by":"crossref","first-page":"1058","DOI":"10.21037\/atm-20-1147","article-title":"A pilot study of expanded newborn screening for 573 genes related to severe inherited disorders in China: Results from 1,127 newborns","volume":"8","author":"Luo","year":"2020","journal-title":"Ann. Transl. Med."},{"key":"ref_472","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1186\/s13023-022-02231-x","article-title":"Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates","volume":"17","author":"Huang","year":"2022","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_473","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1016\/j.jgg.2021.08.008","article-title":"Newborn screening with targeted sequencing: A multicenter investigation and a pilot clinical study in China","volume":"49","author":"Hao","year":"2022","journal-title":"J. Genet. Genom."},{"key":"ref_474","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1007\/s12519-022-00670-x","article-title":"A multicenter prospective study of next-generation sequencing-based newborn screening for monogenic genetic diseases in China","volume":"19","author":"Yang","year":"2023","journal-title":"World J. Pediatr."},{"key":"ref_475","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1002\/ped4.12343","article-title":"Newborn screening for genetic disorders: Current status and prospects for the future","volume":"6","author":"Ding","year":"2022","journal-title":"Pediatr. Investig."},{"key":"ref_476","doi-asserted-by":"crossref","first-page":"e2331162","DOI":"10.1001\/jamanetworkopen.2023.31162","article-title":"Genomic sequencing as a first-tier screening test and outcomes of newborn screening","volume":"6","author":"Chen","year":"2023","journal-title":"JAMA Netw. Open"},{"key":"ref_477","doi-asserted-by":"crossref","first-page":"322","DOI":"10.1186\/s13023-022-02474-8","article-title":"Current attitudes and preconceptions on newborn genetic screening in the Chinese reproductive-aged population","volume":"17","author":"Wang","year":"2022","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_478","doi-asserted-by":"crossref","first-page":"1185802","DOI":"10.3389\/fped.2023.1185802","article-title":"Combined genetic screening and traditional newborn screening to improve the screening efficiency of congenital hypothyroidism","volume":"11","author":"Ye","year":"2023","journal-title":"Front. Pediatr."},{"key":"ref_479","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1002\/jimd.12206","article-title":"Combining newborn metabolic and genetic screening for neonatal intrahepatic cholestasis caused by citrin deficiency","volume":"43","author":"Lin","year":"2020","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_480","doi-asserted-by":"crossref","first-page":"e843","DOI":"10.1002\/ctm2.843","article-title":"A pilot study of assessing whole genome sequencing in newborn screening in unselected children in China","volume":"12","author":"Jian","year":"2022","journal-title":"Clin. Transl. Med."},{"key":"ref_481","doi-asserted-by":"crossref","first-page":"855943","DOI":"10.3389\/fped.2022.855943","article-title":"Application of the artificial intelligence algorithm model for screening of inborn errors of metabolism","volume":"10","author":"Zhou","year":"2022","journal-title":"Front. Pediatr."},{"key":"ref_482","first-page":"286","article-title":"Establishment of an auxiliary diagnosis system of newborn screening for inherited metabolic diseases based on artificial intelligence technology and a clinical trial","volume":"59","author":"Yang","year":"2021","journal-title":"Zhonghua Er Ke Za Zhi"},{"key":"ref_483","doi-asserted-by":"crossref","first-page":"871","DOI":"10.21037\/tp-22-468","article-title":"Increased acylcarnitine ratio indices in newborn screening for carnitine-acylcarnitine translocase deficiency shows increased sensitivity and reduced false-positivity","volume":"12","author":"Shi","year":"2023","journal-title":"Transl. Pediatr."},{"key":"ref_484","doi-asserted-by":"crossref","first-page":"1255","DOI":"10.3389\/fgene.2019.01255","article-title":"Newborn screening for spinal muscular atrophy in China using DNA mass spectrometry","volume":"10","author":"Lin","year":"2019","journal-title":"Front. Genet."},{"key":"ref_485","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1016\/j.cca.2020.01.016","article-title":"Evaluation of a panel of very long-chain lysophosphatidylcholines and acylcarnitines for screening of X-linked adrenoleukodystrophy in China","volume":"503","author":"Tian","year":"2020","journal-title":"Clin. Chim. Acta"},{"key":"ref_486","doi-asserted-by":"crossref","first-page":"e24099","DOI":"10.1002\/jcla.24099","article-title":"Development, validation, and clinical application of an FIA-MS\/MS method for the quantification of lysophosphatidylcholines in dried blood spots","volume":"36","author":"Yue","year":"2022","journal-title":"J. Clin. Lab. Anal."},{"key":"ref_487","doi-asserted-by":"crossref","first-page":"117653","DOI":"10.1016\/j.cca.2023.117653","article-title":"A pilot study of newborn screening for X-linked adrenoleukodystrophy based on liquid chromatography-tandem mass spectrometry method for detection of C26:0-lysophosphatidylcholine in dried blood spots: Results from 43,653 newborns in a southern Chinese population","volume":"552","author":"Tang","year":"2024","journal-title":"Clin. Chim. Acta"},{"key":"ref_488","doi-asserted-by":"crossref","unstructured":"Liu, Z., Jin, H., Ye, M., Han, R., Han, N., and Zhao, J. (2022). Optimization of phenylalanine cut-off value in newborn screening based on blood sampling time. Am. J. Perinatol.","DOI":"10.1055\/s-0042-1759720"},{"key":"ref_489","doi-asserted-by":"crossref","first-page":"835","DOI":"10.1515\/jpem-2021-0077","article-title":"Birth prevalence of tetrahydrobiopterin deficiency in China: Data from the national newborn screening program, 2013\u20132019","volume":"34","author":"Yuan","year":"2021","journal-title":"J. Pediatr. Endocrinol. Metab."},{"key":"ref_490","doi-asserted-by":"crossref","first-page":"109056","DOI":"10.1016\/j.steroids.2022.109056","article-title":"Steroid profile in dried blood spots by liquid chromatography tandem mass spectrometry: Application to newborn screening for congenital adrenal hyperplasia in China","volume":"185","author":"Zhan","year":"2022","journal-title":"Steroids"},{"key":"ref_491","first-page":"565","article-title":"Effects of delivery and storage conditions on concentrations of amino acids and carnitines in neonatal dried blood spots","volume":"49","author":"Hu","year":"2020","journal-title":"J. Zhejiang Univ. (Med. Sci.)"},{"key":"ref_492","doi-asserted-by":"crossref","first-page":"314","DOI":"10.3724\/zdxbyxb-2022-0213","article-title":"Clinical features and outcomes of 31 children with congenital hypothyroidism missed by neonatal screening","volume":"51","author":"Xie","year":"2022","journal-title":"J. Zhejiang Univ."},{"key":"ref_493","doi-asserted-by":"crossref","first-page":"2223","DOI":"10.1097\/CM9.0000000000001613","article-title":"Geographic variations in the incidence of congenital hypothyroidism in China: A retrospective study based on 92 million newborns screened in 2013\u20132018","volume":"134","author":"Yao","year":"2021","journal-title":"Chin. Med. J."},{"key":"ref_494","doi-asserted-by":"crossref","first-page":"e2023949","DOI":"10.1001\/jamanetworkopen.2020.23949","article-title":"Estimated cost-effectiveness of newborn screening for congenital cytomegalovirus infection in China using a Markov model","volume":"3","author":"Chen","year":"2020","journal-title":"JAMA Netw. Open"},{"key":"ref_495","unstructured":"Department of Health, Government of Hong Kong (2023, December 31). Document Number: NBSIEM\/1-60-2\/04. Newborn Screening Program for Inborn Errors of Metabolism. April 2023. Available online: https:\/\/www21.ha.org.hk\/smartpatient\/SPW\/MediaLibraries\/SPW\/SPWMedia\/Education-pamphlet_NBS-IEM_Eng-(for-Apr-Sep-2023).pdf?ext=.pdf."},{"key":"ref_496","doi-asserted-by":"crossref","unstructured":"Belaramani, K.M., Chan, T.C.H., Hau, E.W.L., Yeung, M.C.W., Kwok, A.M.K., Lo, I.F.M., Law, T.H.F., Wu, H., Wong, S.S.N., and Lam, S.W. (2024). Expanded Newborn Screening for Inborn Errors of Metabolism in Hong Kong: Results and Outcome of a 7 Year Journey. Int. J. Neonatal Screen., 10.","DOI":"10.3390\/ijns10010023"},{"key":"ref_497","unstructured":"The Chinese University of Hong Kong & Prince of Wales Hospital (2023, November 06). JHF Newborn Metabolic Screening Program. Available online: https:\/\/www.obg.cuhk.edu.hk\/services\/clinical-services\/obstetrics\/fetal-medicine\/jhf-newborn-metabolic-screening-program\/."},{"key":"ref_498","doi-asserted-by":"crossref","first-page":"226","DOI":"10.12809\/hkmj176939","article-title":"The first pilot study of expanded newborn screening for inborn errors of metabolism and survey of related knowledge and opinions of health care professionals in Hong Kong","volume":"24","author":"Mak","year":"2018","journal-title":"Hong Kong Med. J."},{"key":"ref_499","first-page":"16","article-title":"Evaluation of the 18-month \u201cPilot Study of Newborn Screening for Inborn Errors of Metabolism\u201d in Hong Kong","volume":"25","author":"Lam","year":"2020","journal-title":"Hong Kong J. Pediatr. (New Ser.)"},{"key":"ref_500","first-page":"30","article-title":"Review of a decade of international experiences in severe combined immunodeficiency newborn screening using T-cell receptor excision Circle","volume":"25","author":"Leung","year":"2020","journal-title":"Hong Kong J. Pediatr. (New Ser.)"},{"key":"ref_501","doi-asserted-by":"crossref","first-page":"1373","DOI":"10.1007\/s10198-022-01548-5","article-title":"Significant healthcare burden and life cost of spinal muscular atrophy: Real-world data","volume":"24","author":"Chan","year":"2023","journal-title":"Eur. J. Health Econ."},{"key":"ref_502","unstructured":"(2023). Hong Kong Hospital Authority Annual Plan 2023\u20133024, Hong Kong Hospital Authority. pp. 9, 46, 48."},{"key":"ref_503","doi-asserted-by":"crossref","unstructured":"Ngan, O.M.Y., Wong, W.K., Tam, J.C., and Li, C.K. (2022). Assessing the content quality of online parental resources about newborn metabolic disease screening: A content analysis. Int. J. Neonatal Screen., 8.","DOI":"10.3390\/ijns8040063"},{"key":"ref_504","doi-asserted-by":"crossref","unstructured":"Hui, L.L., Nelson, E.A.S., Deng, H.B., Leung, T.Y., Ho, C.H., Chong, J.S.C., Fung, G.P.G., Hui, J., and Lam, H.S. (2022). The view of Hong Kong parents on secondary use of dried blood spots in newborn screening program. BMC Med. Ethics, 23.","DOI":"10.1186\/s12910-022-00839-z"},{"key":"ref_505","doi-asserted-by":"crossref","unstructured":"Belaramani, K.M., Fung, C.W., Kwok, A.M.K., Lee, S.Y.R., Yau, E.K.C., Luk, H.M., Mak, C.M., Yeung, M.C.W., and Ngan, O.M.Y. (2023). Public and healthcare provider receptivity toward the retention of dried blood spot cards and their usage for extended genetic testing in Hong Kong. Int. J. Neonatal Screen., 9.","DOI":"10.3390\/ijns9030045"},{"key":"ref_506","doi-asserted-by":"crossref","unstructured":"Mak, C.M., Choi, C.T., Wong, T.K., Chin, H.H., Lai, H.K.Y., and Yuet, K.Y. (2022). Technical study of automated high-throughput high-sensitive ceruloplasmin assay on dried blood spots-reinstate the potential use for newborn screening of Wilson Disease. Int. J. Neonatal Screen., 8.","DOI":"10.3390\/ijns8040064"},{"key":"ref_507","doi-asserted-by":"crossref","unstructured":"Mookken, T. (2020). Universal implementation of newborn screening in India. Int. J. Neonatal Screen., 6.","DOI":"10.3390\/ijns6020024"},{"key":"ref_508","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1055\/s-0039-1698424","article-title":"Newborn screening for congenital hypothyroidism, congenital adrenal hyperplasia, and glucose-6-phosphate dehydrogenase deficiency for improving health care in India","volume":"9","author":"Verma","year":"2020","journal-title":"J. Pediatr. Intensive Care"},{"key":"ref_509","doi-asserted-by":"crossref","first-page":"35","DOI":"10.25259\/KPJ_33_2020","article-title":"Newborn screening: Need of the hour","volume":"36","author":"Jalan","year":"2021","journal-title":"Karnataka Paediatr. J."},{"key":"ref_510","first-page":"25","article-title":"Inherited metabolic disorders\u2014Relevance of newborn screening in India","volume":"5","author":"Narayanan","year":"2022","journal-title":"Acta Scientific Paediatr."},{"key":"ref_511","first-page":"17","article-title":"Experience of one and half decades of newborn screening in India","volume":"11","author":"Kumar","year":"2022","journal-title":"EC Pediatr."},{"key":"ref_512","doi-asserted-by":"crossref","first-page":"100040","DOI":"10.1016\/j.lansea.2022.100040","article-title":"Congenital hypothyroidism in India: A systematic review and meta-analysis of prevalence, screen positivity rates, and etiology","volume":"5","author":"Anne","year":"2022","journal-title":"Lancet Reg. Health Southeast Asia"},{"key":"ref_513","doi-asserted-by":"crossref","first-page":"274","DOI":"10.2174\/1573396318666220404194452","article-title":"Inborn errors of metabolism screening in neonates: Current perspective with diagnosis and therapy","volume":"18","author":"Mukherjee","year":"2022","journal-title":"Curr. Pediatr. Rev."},{"key":"ref_514","doi-asserted-by":"crossref","first-page":"788589","DOI":"10.3389\/fped.2022.788589","article-title":"Human and economic cost of disease burden due to congenital hypothyroidism in India: Too little, but not too late","volume":"10","author":"Vidavalur","year":"2022","journal-title":"Front. Pediatr."},{"key":"ref_515","doi-asserted-by":"crossref","first-page":"34","DOI":"10.4103\/JME.JME_38_22","article-title":"Perception towards newborn screening","volume":"4","author":"Amalakani","year":"2023","journal-title":"J. Med. Evid."},{"key":"ref_516","unstructured":"DNB Pediatrics (2023, November 08). Mission NEEV\u2014Objectives and Workflow|DNB Solved Questions. Available online: https:\/\/www.dnbpediatrics.com\/2022\/11\/mission-neev.html."},{"key":"ref_517","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1093\/tropej\/fmz067","article-title":"Newborn screening for five conditions in a tertiary care government hospital in Bengaluru, South India-three years\u2019 experience","volume":"66","author":"Kommalur","year":"2020","journal-title":"J. Trop. Pediatr."},{"key":"ref_518","doi-asserted-by":"crossref","unstructured":"Raveendran, A., Chacko, T.J., Prabhu, P., Varma, R., Lewis, L.E., Rao, P., Shetty, P.P., Mallimoggala, Y.S.P., Hedge, A., and Nayak, D.M. (2022). Need and viability of newborn screening programme in India: Report from a pilot study. Int. J. Neonatal Screen., 8.","DOI":"10.3390\/ijns8020026"},{"key":"ref_519","doi-asserted-by":"crossref","first-page":"82","DOI":"10.5114\/pedm.2021.105295","article-title":"Congenital hypothyroidism in Indian preterm babies\u2014Screening, prevalence, and etiology","volume":"27","author":"Pulluru","year":"2021","journal-title":"Pediatr. Endocrinol. Diabetes Metab."},{"key":"ref_520","doi-asserted-by":"crossref","unstructured":"Tippabathani, J., Seenappa, V., Murugan, A., Phani, N.M., Hampe, M.H., Appaswamy, G., and Sadashiv Gambhir, P. (2023). Neonatal screening for congenital adrenal hyperplasia in Indian newborns with reflex genetic analysis of 21-hydroxylase deficiency. Int. J. Neonatal Screen., 9.","DOI":"10.3390\/ijns9010009"},{"key":"ref_521","doi-asserted-by":"crossref","unstructured":"Dabas, A., Bothra, M., and Kapoor, S. (2020). CAH newborn screening in India: Challenges and opportunities. Int. J. Neonatal Screen., 6.","DOI":"10.3390\/ijns6030070"},{"key":"ref_522","doi-asserted-by":"crossref","first-page":"e6010","DOI":"10.1002\/ccr3.6010","article-title":"Devastating salt-wasting crisis in a four-month-old male child with congenital adrenal hyperplasia, highlighting the essence of neonatal screening","volume":"10","author":"Reddy","year":"2022","journal-title":"Clin. Case Rep."},{"key":"ref_523","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1007\/s13312-020-1703-3","article-title":"Newborn screening and diagnosis of infants with congenital adrenal hyperplasia","volume":"57","author":"Vats","year":"2020","journal-title":"Indian Pediatr."},{"key":"ref_524","doi-asserted-by":"crossref","first-page":"731884","DOI":"10.3389\/fmed.2021.731884","article-title":"Newborn screening for sickle cell disease among tribal populations in the States of Gujarat and Madhya Pradesh in India: Evaluation and outcome over 6 years","volume":"8","author":"Thaker","year":"2022","journal-title":"Front. Med."},{"key":"ref_525","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1007\/s13312-022-2476-7","article-title":"Newborn screening and clinical profile of children with sickle cell disease in a tribal area of Gujarat","volume":"59","author":"Dave","year":"2022","journal-title":"Indian Pediatr."},{"key":"ref_526","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1177\/09691413221123131","article-title":"Feasibility of population-based screening of sickle cell disease through the primary health care system in tribal areas of India","volume":"30","author":"Babu","year":"2023","journal-title":"J. Med. Screen."},{"key":"ref_527","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1093\/ajcp\/aqz108","article-title":"Multicenter evaluation of HemoTypeSC \u2122as a point-of-care sickle cell disease rapid diagnostic test for newborns and adults across India","volume":"153","author":"Mukherjee","year":"2020","journal-title":"Am. J. Clin. Pathol."},{"key":"ref_528","unstructured":"Ministry of Health and Welfare (2023, November 08). Prime Minister Launches National Sickle Cell Anaemia Elimination Mission from Shahdol, Madhya Pradesh, Available online: https:\/\/pib.gov.in\/PressReleaseIframePage.aspx?PRID=1936735."},{"key":"ref_529","doi-asserted-by":"crossref","unstructured":"Octavius, G.S., Daleni, V.A., and Sagala, Y.D.S. (2023). An insight into Indonesia\u2019s challenges in implementing newborn screening programs and their future implications. Children, 10.","DOI":"10.3390\/children10071216"},{"key":"ref_530","doi-asserted-by":"crossref","first-page":"98","DOI":"10.23886\/ejki.8.11611.","article-title":"Preliminary study of newborn screening for congenital hypothyroidism and congenital adrenal hyperplasia in Indonesia","volume":"8","author":"Pulungan","year":"2020","journal-title":"eJournal Kedokt. Indones."},{"key":"ref_531","first-page":"495","article-title":"The evaluation of congenital hypothyroidism screening program in Indonesia: Literature review","volume":"7","author":"Setyaningsih","year":"2022","journal-title":"J. Aisyah J. Ilmu Kesehat"},{"key":"ref_532","unstructured":"VOI (2023, November 15). Newborns in Indonesia Now Mandatory to Screen the Hypothyroid Concentric, This Is an Explanation from the Ministry of Health. Available online: https:\/\/voi.id\/en\/news\/206259."},{"key":"ref_533","doi-asserted-by":"crossref","unstructured":"Pulungan, A.B., Puteri, H.A., Faizi, M., Hofman, P.L., Utari, A., and Chanoine, J.-P. (2024). Experiences and challenges with congenital hypothyroidism newborn screening in Indonesia: A national cross-sectional survey. Int. J. Neonatal Screen., 10.","DOI":"10.3390\/ijns10010008"},{"key":"ref_534","doi-asserted-by":"crossref","unstructured":"Tajima, T. (2022). Newborn screening in Japan\u20142021. Int. J. Neonatal Screen., 8.","DOI":"10.3390\/ijns8010003"},{"key":"ref_535","doi-asserted-by":"crossref","unstructured":"Minamitani, K. (2021). Newborn screening for congenital hypothyroidism in Japan. Int. J. Neonatal Screen., 7.","DOI":"10.3390\/ijns7030034"},{"key":"ref_536","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1297\/cpe.2022-0063","article-title":"Guidelines for newborn screening of congenital hypothyroidism (2021 Revision)","volume":"32","author":"Nagasaki","year":"2023","journal-title":"Clin. Pediatr. Endocrinol."},{"key":"ref_537","doi-asserted-by":"crossref","unstructured":"Tsuji-Hosokawa, A., and Kashimada, K. (2021). Thirty-year lessons from the newborn screening for congenital adrenal hyperplasia (CAH) in Japan. Int. J. Neonatal Screen., 7.","DOI":"10.3390\/ijns7030036"},{"key":"ref_538","doi-asserted-by":"crossref","first-page":"3341","DOI":"10.1210\/clinem\/dgac521","article-title":"The high relevance of 21-deoxycortisol, (androstenedione + 17\u03b1-hydroxyprogesterone)\/cortisol, and 11-deoxycortisol\/17\u03b1-hydroxyprogesterone for newborn screening of 21-hydroxylase deficiency","volume":"107","author":"Watanabe","year":"2022","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_539","doi-asserted-by":"crossref","unstructured":"Kikuchi, A., Wada, Y., Ohura, T., and Kure, S. (2021). The discovery of GALM deficiency (type IV galactosemia) and newborn screening system for galactosemia in Japan. Int. J. Neonatal Screen., 7.","DOI":"10.3390\/ijns7040068"},{"key":"ref_540","doi-asserted-by":"crossref","first-page":"100563","DOI":"10.1016\/j.ymgmr.2019.100563","article-title":"Newborn screening for mucopolysaccharidoses: Measurement of glycosaminoglycans by LC-MS\/MS","volume":"22","author":"Stapleton","year":"2020","journal-title":"Mol. Genet. Metab. Rep."},{"key":"ref_541","doi-asserted-by":"crossref","unstructured":"Shigematsu, Y., Yuasa, M., Ishige, N., Nakajima, H., and Tajima, G. (2021). Development of second-tier liquid chromatography-tandem mass spectrometry analysis for expanded newborn screening in Japan. Int. J. Neonatal Screen., 7.","DOI":"10.3390\/ijns7030044"},{"key":"ref_542","doi-asserted-by":"crossref","unstructured":"Shimozawa, N., Takashima, S., Kawai, H., Kubota, K., Sasai, H., Orii, K., Ogawa, M., and Ohnishi, H. (2021). Advanced diagnostic system and introduction of newborn screening of adrenoleukodystrophy and peroxisomal disorders in Japan. Int. J. Neonatal Screen., 7.","DOI":"10.3390\/ijns7030058"},{"key":"ref_543","doi-asserted-by":"crossref","unstructured":"Niba, E.T.E., Wijaya, Y.O.S., Awano, H., Taniguchi, N., Takeshima, Y., Nishio, H., and Shinohara, M. (2021). DBS screening for glycogen storage disease type 1a: Detection of c.648G>T mutation in G6PC by combination of modified competitive oligonucleotide priming-PCR and melting curve analysis. Int. J. Neonatal Screen., 7.","DOI":"10.3390\/ijns7040079"},{"key":"ref_544","first-page":"E71","article-title":"Glycogen storage disease type Ia screening using dried blood spots on filter paper: Application of COP-PCR for detection of the c.648G>T G6PC gene mutation","volume":"67","author":"Wijaya","year":"2021","journal-title":"Kobe J. Med. Sci."},{"key":"ref_545","doi-asserted-by":"crossref","unstructured":"Odagiri, S., Kabata, D., Tomita, S., Kudo, S., Sakaguchi, T., Nakano, N., Yamamoto, K., Shintaku, H., and Hamazaki, T. (2021). Clinical and genetic characteristics of patients with mild hyperphenylalaninemia identified by newborn screening program in Japan. Int. J. Neonatal Screen., 7.","DOI":"10.3390\/ijns7010017"},{"key":"ref_546","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1016\/j.ymgme.2022.03.009","article-title":"The frequencies of very long-chain acyl-CoA dehydrogenase deficiency genetic variants in Japan have changed since the implementation of expanded newborn screening","volume":"136","author":"Osawa","year":"2022","journal-title":"Mol. Genet. Metab."},{"key":"ref_547","doi-asserted-by":"crossref","unstructured":"Tajima, G., Kagawa, R., Sakura, F., Nakamura-Utsunomiya, A., Hara, K., Yuasa, M., Hasegawa, Y., Sasai, H., and Okada, S. (2021). Current perspectives on neonatal screening for propionic acidemia in Japan: An unexpectedly high incidence of patients with mild disease caused by a common PCCB variant. Int. J. Neonatal Screen., 7.","DOI":"10.3390\/ijns7030035"},{"key":"ref_548","doi-asserted-by":"crossref","first-page":"100611","DOI":"10.1016\/j.ymgmr.2020.100611","article-title":"Need for strict clinical management of patients with carnitine palmitoyltransferase II deficiency: Experience with two cases detected by expanded newborn screening","volume":"24","author":"Bo","year":"2020","journal-title":"Mol. Genet. Metab. Rep."},{"key":"ref_549","doi-asserted-by":"crossref","unstructured":"Kagawa, R., Tajima, G., Maeda, T., Sakura, F., Nakamura-Utsunomiya, A., Hara, K., Nishimura, Y., Yuasa, M., Shigematsu, Y., and Tanaka, H. (2021). Pilot study on neonatal screening for methylmalonic acidemia caused by defects in the adenosylcobalamin synthesis pathway and homocystinuria caused by defects in homocysteine remethylation. Int. J. Neonatal Screen., 7.","DOI":"10.3390\/ijns7030039"},{"key":"ref_550","doi-asserted-by":"crossref","unstructured":"Tajima, G., Hara, K., Tsumura, M., Kagawa, R., Sakura, F., Sasai, H., Yuasa, M., Shigematsu, Y., and Okada, S. (2023). Newborn screening with (C16 + C18:1)\/C2 and C14\/C3 for carnitine palmitoyltransferase II deficiency throughout Japan has revealed C12\/C0 as an index of higher sensitivity and specificity. Int. J. Neonatal Screen., 9.","DOI":"10.3390\/ijns9040062"},{"key":"ref_551","doi-asserted-by":"crossref","unstructured":"Yamada, K., Yokoyama, K., Aoki, K., Taketani, T., and Yamaguchi, S. (2020). Long-term outcomes of adult patients with homocystinuria before and after newborn screening in Japan. Int. J. Neonatal Screen., 6.","DOI":"10.3390\/ijns6030060"},{"key":"ref_552","doi-asserted-by":"crossref","unstructured":"Yamada, K., Yamaguchi, S., Yokoyama, K., Aoki, K., and Taketani, T. (2021). Long-term neurological outcomes of adult patients with phenylketonuria before and after newborn screening in Japan. Int. J. Neonatal Screen., 7.","DOI":"10.3390\/ijns7020021"},{"key":"ref_553","doi-asserted-by":"crossref","unstructured":"Hattori, T., Notsu, Y., Tanaka, M., Matsui, M., Tetsuo Iida, T., Watanabe, J., Osawa, Y., Yamaguchi, S., Yano, S., and Taketani, T. (2022). A simple flow injection analysis\u2013tandem mass spectrometry method to reduce false positives of C5-acylcarnitines due to pivaloylcarnitine using reference ions. Children, 9.","DOI":"10.3390\/children9050694"},{"key":"ref_554","doi-asserted-by":"crossref","unstructured":"Sawada, T., Kido, J., and Nakamura, K. (2020). Newborn screening for Pompe Disease. Int. J. Neonatal Screen., 6.","DOI":"10.3390\/ijns6020031"},{"key":"ref_555","doi-asserted-by":"crossref","first-page":"516","DOI":"10.1186\/s13023-021-02146-z","article-title":"Current status of newborn screening for Pompe disease in Japan","volume":"16","author":"Sawada","year":"2021","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_556","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1038\/s10038-020-0744-8","article-title":"Newborn screening of mucopolysaccharidoses: Past, present, and future","volume":"65","author":"Arunkumar","year":"2020","journal-title":"J. Hum. Genet."},{"key":"ref_557","doi-asserted-by":"crossref","first-page":"100562","DOI":"10.1016\/j.ymgmr.2019.100562","article-title":"Newborn screening for Fabry disease in the western region of Japan","volume":"22","author":"Sawada","year":"2020","journal-title":"Mol. Genet. Metab. Rep."},{"key":"ref_558","doi-asserted-by":"crossref","first-page":"e1502","DOI":"10.1002\/mgg3.1502","article-title":"Detection of novel Fabry disease-associated pathogenic variants in Japanese patients by newborn and high-risk screening","volume":"8","author":"Sawada","year":"2020","journal-title":"Mol. Genet. Genomic Med."},{"key":"ref_559","doi-asserted-by":"crossref","first-page":"107703","DOI":"10.1016\/j.ymgme.2023.107703","article-title":"Dried blood spot-based newborn screening for bile acid synthesis disorders, Zellweger spectrum disorder, and Niemann-Pick type C1 by detection of bile acid metabolites","volume":"140","author":"Muto","year":"2023","journal-title":"Mol. Genet. Metab."},{"key":"ref_560","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1016\/S2352-4642(22)00378-9","article-title":"Newborn screening for spinal muscular atrophy","volume":"7","author":"Nishio","year":"2023","journal-title":"Lancet Child Adolesc. Health"},{"key":"ref_561","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1016\/j.braindev.2023.03.004","article-title":"Newborn screening for spinal muscular atrophy in Osaka\u2014Challenges in a Japanese pilot study","volume":"45","author":"Kimizu","year":"2023","journal-title":"Brain Dev."},{"key":"ref_562","doi-asserted-by":"crossref","unstructured":"Kimizu, T., Ida, S., Okamoto, K., Awano, H., Niba, E.T.E., Wijaya, Y.O.S., Okazaki, S., Shimomura, H., Lee, T., and Tominaga, K. (2021). Spinal muscular atrophy: Diagnosis, incidence, and newborn screening in Japan. Int. J. Neonatal Screen., 7.","DOI":"10.3390\/ijns7030045"},{"key":"ref_563","doi-asserted-by":"crossref","first-page":"100908","DOI":"10.1016\/j.ymgmr.2022.100908","article-title":"Newborn screening for spinal muscular atrophy in Japan: One year of experience","volume":"32","author":"Sawada","year":"2022","journal-title":"Mol. Genet. Metab. Rep."},{"key":"ref_564","doi-asserted-by":"crossref","unstructured":"Noguchi, Y., Bo, R., Nishio, H., Matsumoto, H., Matsui, K., Yano, Y., Sugawara, M., Ueda, G., Wijaya, Y.O.S., and Niba, E.T.E. (2022). PCR-based screening of spinal muscular atrophy for newborn infants in Hyogo Prefecture, Japan. Genes, 13, Erratum in Genes 2023, 14, 759.","DOI":"10.3390\/genes14030759"},{"key":"ref_565","doi-asserted-by":"crossref","unstructured":"Wijaya, Y.O.S., Purevsuren, J., Harahap, N.I.F., Niba, E.T.E., Bouike, Y., Nurputra, D.K., Rochmah, M.A., Thursina, C., Hapsara, S., and Yamaguchi, S. (2020). Assessment of spinal muscular atrophy carrier status by determining SMN1 copy number using dried blood spots. Int. J. Neonatal Screen., 6.","DOI":"10.3390\/ijns6020043"},{"key":"ref_566","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1089\/gtmb.2011.0109","article-title":"Spinal muscular atrophy patient detection and carrier screening using dried blood spots on filter paper","volume":"16","author":"Harahap","year":"2012","journal-title":"Genet. Test Mol. Biomark."},{"key":"ref_567","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1089\/gtmb.2020.0312","article-title":"Dried blood spot screening system for spinal muscular atrophy with allele-specific polymerase chain reaction and melting peak analysis","volume":"25","author":"Harahap","year":"2021","journal-title":"Genet. Test. Mol. Biomark."},{"key":"ref_568","doi-asserted-by":"crossref","first-page":"dgaa308","DOI":"10.1210\/clinem\/dgaa308","article-title":"Targeted next-generation sequencing for congenital hypothyroidism with positive neonatal TSH screening","volume":"105","author":"Yamaguchi","year":"2020","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_569","doi-asserted-by":"crossref","first-page":"1696","DOI":"10.1007\/s10875-022-01335-0","article-title":"TREC\/KREC newborn screening followed by next-generation sequencing for severe combined immunodeficiency in Japan","volume":"42","author":"Wakamatsu","year":"2022","journal-title":"J. Clin. Immunol."},{"key":"ref_570","doi-asserted-by":"crossref","unstructured":"Konomura, K., Hoshino, E., Sakai, K., Fukuda, T., and Tajima, G. (2023). Development of a model for quantitative assessment of newborn screening in Japan using the analytic hierarchy process. Int. J. Neonatal Screen., 9.","DOI":"10.3390\/ijns9030039"},{"key":"ref_571","unstructured":"Morning Calm Birthing Services (2023, June 15). Newborn Screening Tests in Korea. Available online: https:\/\/www.morningcalmbirthing.com\/resources\/newborn-screening-tests-korea\/."},{"key":"ref_572","doi-asserted-by":"crossref","unstructured":"Lee, H.-J. (2019). Application of a Targeted Next Generation Sequencing Panel for Newborn Screening. [Ph.D. Dissertation, Yonsei University].","DOI":"10.3349\/ymj.2019.60.11.1061"},{"key":"ref_573","doi-asserted-by":"crossref","first-page":"1061","DOI":"10.3349\/ymj.2019.60.11.1061","article-title":"Implementation of a targeted next-generation sequencing panel for constitutional newborn screening in high-risk neonates","volume":"60","author":"Lee","year":"2019","journal-title":"Yonsei Med. J."},{"key":"ref_574","doi-asserted-by":"crossref","first-page":"20","DOI":"10.4069\/kjwhn.2023.02.21","article-title":"Analysis of online parenting community posts on expanded newborn screening for metabolic disorders using topic modeling: A quantitative content analysis","volume":"29","author":"Lee","year":"2023","journal-title":"Korean J. Women Health Nurs."},{"key":"ref_575","doi-asserted-by":"crossref","first-page":"143","DOI":"10.15263\/jlmqa.2022.44.3.143","article-title":"Report of the Korean Association of External Quality assessment service on metabolite testing in Korea (2020\u20132021)","volume":"44","author":"Lee","year":"2022","journal-title":"Lab. Med. Qual. Assur."},{"key":"ref_576","unstructured":"Michael, I. (2023, June 13). CRMs for Dried Blood Spot Testing for Newborn Screening. Spectroscopy\u2014Europe World. Available online: https:\/\/www.spectroscopyeurope.com\/product\/crms-dried-blood-spot-testing-newborn-screening."},{"key":"ref_577","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1016\/j.jmsacl.2023.01.001","article-title":"Identification of a frit-related sample carryover in newborn screening by tandem mass spectrometry","volume":"27","author":"Kim","year":"2023","journal-title":"J. Mass Spectrom. Adv. Clin. Lab."},{"key":"ref_578","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1093\/tropej\/fms057","article-title":"Establishment of the first newborn screening program in the People\u2019s Democratic Republic of Laos","volume":"59","author":"Hoehn","year":"2013","journal-title":"J. Trop. Pediatr."},{"key":"ref_579","doi-asserted-by":"crossref","first-page":"105306","DOI":"10.1016\/j.earlhumdev.2021.105306","article-title":"Establishment of a sustainable newborn TSH-screening program in the People\u2019s Democratic Republic of Laos","volume":"154","author":"Vesaphong","year":"2021","journal-title":"Early Hum. Dev."},{"key":"ref_580","unstructured":"H\u00f6hn, T. Personal communication."},{"key":"ref_581","unstructured":"Kam, K. Personal communication."},{"key":"ref_582","first-page":"63","article-title":"Present status and future concerns of expanded newborn screening in Malaysia: Sustainability, challenges and perspectives","volume":"21","author":"Leong","year":"2014","journal-title":"Malays. J. Med. Sci."},{"key":"ref_583","doi-asserted-by":"crossref","first-page":"1031","DOI":"10.1515\/jpem-2016-0028","article-title":"Pilot study of newborn screening of inborn error of metabolism using tandem mass spectrometry in Malaysia: Outcome and challenges","volume":"29","author":"Yunus","year":"2016","journal-title":"J. Pediatr. Endocrinol. Metab."},{"key":"ref_584","doi-asserted-by":"crossref","first-page":"e0230850","DOI":"10.1371\/journal.pone.0230850","article-title":"Rare disease in Malaysia: Challenges and solutions","volume":"15","author":"Shafie","year":"2020","journal-title":"PLoS ONE"},{"key":"ref_585","doi-asserted-by":"crossref","first-page":"109090","DOI":"10.1016\/j.dib.2023.109090","article-title":"Dataset from dried blood spot acylcarnitine for detection of carnitine translocase (CACT) deficiency and carnitine palmitoyl transferase 2 (CPT2) deficiency","volume":"48","author":"Habib","year":"2023","journal-title":"Data Brief."},{"key":"ref_586","doi-asserted-by":"crossref","unstructured":"Zulkeflee, R.H., Bahar, R., Abdullah, M., Mohd Radzi, M.A.R., Md Fauzi, A., and Hassan, R. (2023). Application of targeted next-generation sequencing for the investigation of thalassemia in a developing country: A single center experience. Diagnostics, 13.","DOI":"10.3390\/diagnostics13081379"},{"key":"ref_587","first-page":"31","article-title":"Evaluation of quantitative point-of-care test for measurement of glucose-6-phosphate dehydrogenase enzyme activity in Malaysia","volume":"45","author":"Zailani","year":"2023","journal-title":"Malays. J. Pathol."},{"key":"ref_588","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1108\/JHR-08-2019-0198","article-title":"Assessment of healthcare workers\u2019 behavior in implementing a newborn screening program for congenital hypothyroidism in Perak, Malaysia","volume":"35","author":"Hamzah","year":"2021","journal-title":"J. Health Res."},{"key":"ref_589","doi-asserted-by":"crossref","first-page":"125","DOI":"10.5582\/irdr.2022.01062","article-title":"Knowledge and perception of inborn errors of metabolism (IEMs) among healthcare students at a selected public university in Klang Valley, Malaysia","volume":"11","author":"Liew","year":"2022","journal-title":"Intractable Rare Dis. Res."},{"key":"ref_590","doi-asserted-by":"crossref","unstructured":"Tsevgee, A., Batjargal, K., Munkhchuluun, T., Khurelbaatar, N., Nansal, G., Bulgan, O.E., Nyamjav, S., Zagd, G., and Ganbaatar, E. (2021). First experiences with newborn screening for congenital hypothyroidism in Ulaanbaatar, Mongolia. Int. J. Neonatal Screen., 7.","DOI":"10.3390\/ijns7020029"},{"key":"ref_591","unstructured":"Ganbaatar, E. Personal communication."},{"key":"ref_592","doi-asserted-by":"crossref","unstructured":"Sharma Pandey, A., Joshi, S., Rajbhandari, R., Kansakar, P., Dhakal, S., and Fingerhut, R. (2019). Newborn screening for selected disorders in Nepal: A pilot study. Int. J. Neonatal Screen., 5.","DOI":"10.3390\/ijns5020018"},{"key":"ref_593","unstructured":"Khan, J.K., Manandhar, S., Subedi, K.U., Paudel, P., Bir Karmancharya, S., Vaidya, K.M., Manandhar, D.S., Chhantel, R., Garza, R., and Dookeran, K.A. (2022., January 7\u201311). Determination of feasibility and acceptability of newborn screening in Nepal\u2014A pilot study. Poster PC2106. Proceedings of the American Academy of Pediatrics National Conference & Exhibition 2022, Anaheim, CA, USA. Available online: https:\/\/www.eventscribe.net\/2022\/AAPexperience\/fsPopup.asp?PosterID=524433&mode=posterinfo."},{"key":"ref_594","doi-asserted-by":"crossref","first-page":"100542","DOI":"10.1016\/j.ymgmr.2019.100542","article-title":"Case reports of metabolic disorders from Nepal","volume":"21","year":"2019","journal-title":"Mol. Genet. Metab. Rep."},{"key":"ref_595","doi-asserted-by":"crossref","first-page":"774","DOI":"10.31729\/jnma.7651","article-title":"Sickle cell anaemia among Tharu population visiting the outpatient department of general medicine in a secondary care centre: A descriptive cross-sectional study","volume":"60","author":"Pandey","year":"2022","journal-title":"J. Nepal Med. Assoc."},{"key":"ref_596","unstructured":"National Screening Unit (2023, November 08). Changes to the Disorders Screened for: Conditions No Longer Being Screened for, Available online: https:\/\/www.nsu.govt.nz\/pregnancy-newborn-screening\/newborn-metabolic-screening-programme-heel-prick-test\/about-test."},{"key":"ref_597","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1002\/jimd.12030","article-title":"The decision to discontinue screening for carnitine uptake disorder in New Zealand","volume":"42","author":"Wilson","year":"2019","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_598","doi-asserted-by":"crossref","unstructured":"Heather, N., de Hora, M., Brothers, S., Grainger, P., Knoll, D., and Webster, D. (2022). Introducing newborn screening for severe combined immunodeficiency-the New Zealand experience. Int. J. Neonatal Screen., 8.","DOI":"10.3390\/ijns8020033"},{"key":"ref_599","doi-asserted-by":"crossref","unstructured":"de Hora, M.R., Heather, N.L., Patel, T., Bresnahan, L.G., Webster, D., and Hofman, P.L. (2020). Measurement of 17-hydroxyprogesterone by LC MSMS improves newborn screening for CAH due to 21-Hydroxylase deficiency in New Zealand. Int. J. Neonatal Screen., 6.","DOI":"10.3390\/ijns6010006"},{"key":"ref_600","doi-asserted-by":"crossref","first-page":"1226284","DOI":"10.3389\/fendo.2023.1226284","article-title":"The use of liquid chromatography-tandem mass spectrometry in newborn screening for congenital adrenal hyperplasia: Improvements and future perspectives","volume":"14","author":"Heather","year":"2023","journal-title":"Front. Endocrinol."},{"key":"ref_601","doi-asserted-by":"crossref","first-page":"904","DOI":"10.1111\/cen.14422","article-title":"Implementing steroid profiling by liquid chromatography-tandem mass spectrometry improves newborn screening for congenital adrenal hyperplasia in New Zealand","volume":"94","author":"Heather","year":"2021","journal-title":"Clin. Endocrinol."},{"key":"ref_602","doi-asserted-by":"crossref","first-page":"e3390","DOI":"10.1210\/clinem\/dgab383","article-title":"Birth weight- or gestational age-adjusted second-tier LCMSMS cutoffs improve newborn screening for CAH in New Zealand","volume":"106","author":"Heather","year":"2021","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_603","doi-asserted-by":"crossref","unstructured":"de Hora, M.R., Heather, N.L., Webster, D., Albert, B.B., and Hofman, P.L. (2022). Evaluation of a new laboratory protocol for newborn screening for congenital adrenal hyperplasia in New Zealand. Int. J. Neonatal Screen., 8.","DOI":"10.3390\/ijns8040056"},{"key":"ref_604","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1111\/cen.13250","article-title":"Evaluation of the revised New Zealand national newborn screening protocol for congenital hypothyroidism","volume":"86","author":"Heather","year":"2017","journal-title":"Clin. Endocrinol."},{"key":"ref_605","doi-asserted-by":"crossref","first-page":"456","DOI":"10.1111\/cen.14044","article-title":"The impact of demographic factors on newborn TSH levels and congenital hypothyroidism screening","volume":"91","author":"Heather","year":"2019","journal-title":"Clin. Endocrinol."},{"key":"ref_606","doi-asserted-by":"crossref","unstructured":"Brown, A., Hofman, P., Li, B., Heron, C., and Heather, N. (2023). A positive newborn screen for congenital hypothyroidism in a clinically euthyroid neonate-avoiding unnecessary treatment. Int. J. Neonatal Screen., 9.","DOI":"10.3390\/ijns9020016"},{"key":"ref_607","doi-asserted-by":"crossref","first-page":"dgaa415","DOI":"10.1210\/clinem\/dgaa415","article-title":"Newborn screening TSH values less than 15 mIU\/L are not associated with long-term hypothyroidism or cognitive impairment","volume":"105","author":"West","year":"2020","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_608","doi-asserted-by":"crossref","unstructured":"Heather, N., and Webster, D. (2020). It all depends on what you count-the importance of definitions in evaluation of CF screening performance. Int. J. Neonatal Screen., 6.","DOI":"10.3390\/ijns6020047"},{"key":"ref_609","doi-asserted-by":"crossref","unstructured":"Heather, N., Morgan, L., Knoll, D., Shore, K., de Hora, M., and Webster, D. (2022). Introduction of a protocol for structured follow-up and texting of inadequate and borderline-positive newborn metabolic screening results. Int. J. Neonatal Screen., 8.","DOI":"10.3390\/ijns8020030"},{"key":"ref_610","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1002\/jmd2.12339","article-title":"The risk of classical galactosaemia in newborns with borderline galactose metabolites on newborn screening","volume":"64","author":"Bernhardt","year":"2022","journal-title":"JIMD Rep."},{"key":"ref_611","doi-asserted-by":"crossref","first-page":"322","DOI":"10.1002\/jmd2.12271","article-title":"Genotype-phenotype correlations in CPT1A deficiency detected by newborn screening in Pacific populations","volume":"63","author":"Bernhardt","year":"2022","journal-title":"JIMD Rep."},{"key":"ref_612","doi-asserted-by":"crossref","first-page":"1048897","DOI":"10.3389\/fped.2022.1048897","article-title":"Application of the screening test principles to screening for neonatal hypoglycemia","volume":"10","author":"Alsweiler","year":"2022","journal-title":"Front. Pediatr."},{"key":"ref_613","unstructured":"(2023, November 17). Te Whatu Ora, Health New Zealand. Newborn Screening for Spinal Muscular Atrophy (SMA) to Help Babies Access Life-Saving Treatments Earlier, Available online: https:\/\/www.tewhatuora.govt.nz\/whats-happening\/news-and-updates\/older-news-items\/new-screening-for-spinal-muscular-atrophy-sma-to-help-babies-access-life-saving-treatments-earlier\/."},{"key":"ref_614","unstructured":"(2023, June 17). Provincial Assembly of Sindh. The Sindh Newborn Screening Act of 2013, Available online: http:\/\/www.pas.gov.pk\/index.php\/acts\/details\/en\/31\/255."},{"key":"ref_615","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1186\/s13023-020-01602-6","article-title":"Trends of congenital hypothyroidism and inborn errors of metabolism in Pakistan","volume":"15","author":"Mansoor","year":"2020","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_616","doi-asserted-by":"crossref","first-page":"104","DOI":"10.55629\/pakjpathol.v33i3.715","article-title":"Establishing a nationwide newborn screening program for congenital hypothyroidism: A systematic review","volume":"33","author":"Majid","year":"2022","journal-title":"Pak. J. Pathol."},{"key":"ref_617","doi-asserted-by":"crossref","first-page":"526","DOI":"10.47391\/JPMA.01181","article-title":"Perspective on newborn screening (NBS): Evidence sharing on conditions to be included in NBS in Pakistan","volume":"72","author":"Majid","year":"2022","journal-title":"J. Pak. Med. Assoc."},{"key":"ref_618","doi-asserted-by":"crossref","unstructured":"Wasim, M., Khan, H.N., Ayesha, H., and Awan, F.R. (2023). Need and challenges in establishing newborn screening programs for inherited metabolic disorders in developing countries. Adv. Biol., 7.","DOI":"10.1002\/adbi.202200318"},{"key":"ref_619","unstructured":"The Aga Khan University (2023, June 17). Nationwide Screening Needed to Protect Newborns. Available online: https:\/\/www.aku.edu\/news\/Pages\/News_Details.aspx?nid=NEWS-001762."},{"key":"ref_620","doi-asserted-by":"crossref","first-page":"762","DOI":"10.3389\/fneur.2019.00762","article-title":"Biochemical screening of intellectually disabled patients: A stepping stone to initiate a newborn screening program in Pakistan","volume":"10","author":"Wasim","year":"2019","journal-title":"Front. Neurol."},{"key":"ref_621","doi-asserted-by":"crossref","first-page":"97","DOI":"10.47391\/JPMA.2167","article-title":"Establishing biotinidase reference interval: A foundation stone for newborn screening of biotinidase deficiency in Pakistan","volume":"72","author":"Bibi","year":"2022","journal-title":"J. Pak. Med. Assoc."},{"key":"ref_622","first-page":"191","article-title":"Diagnostic evaluation of heel prick newborn screening of thyroid stimulating hormone on dissociation-enhanced lanthanide fluorescence immunoassay with the establishment of reference value in Pakistani neonates","volume":"71","author":"Chaudhri","year":"2021","journal-title":"J. Pak. Med. Assoc."},{"key":"ref_623","doi-asserted-by":"crossref","unstructured":"Jafri, L., Khan, A.H., Ilyas, M., Nisar, I., Khalid, J., Majid, H., Hotwani, A., and Jehan, F. (2023). Metabolomics of a neonatal cohort from the Alliance for Maternal and Newborn Health Improvement biorepository: Effect of preanalytical variables on reference intervals. PLoS ONE, 18.","DOI":"10.1371\/journal.pone.0279931"},{"key":"ref_624","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1016\/j.clim.2019.03.004","article-title":"Rethinking newborn screening for severe combined immunodeficiency: Lessons from an international partnership for patients with primary immunodeficiencies in Pakistan","volume":"202","author":"Wallace","year":"2019","journal-title":"Clin. Immunol."},{"key":"ref_625","doi-asserted-by":"crossref","unstructured":"Majid, H., Ahmed, S., Siddiqui, I., Humayun, K., Karimi, H., and Khan, A.H. (2020). Newborn screening for congenital hypothyroidism: Improvement in short-term follow-up by audit and monitoring. BMC Res. Notes, 13.","DOI":"10.1186\/s13104-020-05400-y"},{"key":"ref_626","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1093\/inthealth\/ihx069","article-title":"Assessment of knowledge, attitudes and practices towards newborn screening for congenital hypothyroidism before and after a health education intervention in pregnant women in a hospital setting in Pakistan","volume":"10","author":"Tariq","year":"2018","journal-title":"Int. Health"},{"key":"ref_627","first-page":"2350","article-title":"Newborn screening for congenital hypothyroidism: Impact of parents counseling on the uptake of program","volume":"27","author":"Mohsin","year":"2020","journal-title":"Prof. Med. J."},{"key":"ref_628","doi-asserted-by":"crossref","unstructured":"Padilla, C.D., Therrell, B.L., Alcausin, M.M.L.B., de Castro, R.C., Gepte, M.B.P., Reyes, M.E.L., Jomento, C.M., Suarez, R.C.N., Maceda, E.B.G., and Abarquez, C.G. (2021). Successful implementation of newborn screening for hemoglobin disorders in the Philippines. Int. J. Neonatal Screen., 7.","DOI":"10.3390\/ijns7020030"},{"key":"ref_629","doi-asserted-by":"crossref","unstructured":"Padilla, C.D., Therrell, B.L., Alcausin, M.M.L.B., Chiong, M.A.D., Abacan, M.A.R., Reyes, M.E.L., Jomento, C.M., Dizon-Escoreal, M.T.T., Canlas, M.A.E., and Abadingo, M.E. (2022). Successful implementation of expanded newborn screening in the Philippines using tandem mass spectrometry. Int. J. Neonatal Screen., 8.","DOI":"10.3390\/ijns8010008"},{"key":"ref_630","doi-asserted-by":"crossref","unstructured":"Padilla, C.D., Therrell, B.L., Panol, K.A.R., Suarez, R.C.N., Reyes, M.E.L., Jomento, C.M., Maceda, E.B.G., Lising, J.A.C., Beltran, F.D.E., and Orbillo, L.L. (2020). Philippine performance evaluation and assessment scheme (PPEAS): Experiences in newborn screening system quality improvement. Int. J. Neonatal Screen., 6.","DOI":"10.3390\/ijns6040095"},{"key":"ref_631","doi-asserted-by":"crossref","unstructured":"Maceda, E.B.G., Abadingo, M.E., Panol, K.A.R., Beltran, F.D.E., Valdez-Acosta, I.R.C., Taquiqui, G.D., Gawigawen, S.B., Macalino, M.V.L., Aguirre-Aguinaldo, L.M.S.M., and Flores-Declaro, M.A. (2022). Newborn screening long-term follow-up clinics (continuity clinics) in the Philippines during the COVID-19 pandemic: Continuing quality patient care. Int. J. Neonatal Screen., 9.","DOI":"10.3390\/ijns9010002"},{"key":"ref_632","doi-asserted-by":"crossref","first-page":"61","DOI":"10.18848\/2156-8960\/CGP\/v10i04\/61-76","article-title":"Predictors of newborn screening utilization in Quezon City, Philippines","volume":"10","author":"Feliciano","year":"2020","journal-title":"Int. J. Health Wellness Soc."},{"key":"ref_633","doi-asserted-by":"crossref","unstructured":"Padilla, P.J.D., and Manalo, E.M. (2023). Newborn screening knowledge, attitudes and practices among obstetrics-gynecology residents, pediatric residents, and newborn screening nurses in a tertiary government hospital in the Philippines during the COVID-19 pandemic. Int. J. Neonatal Screen., 9.","DOI":"10.3390\/ijns9020019"},{"key":"ref_634","doi-asserted-by":"crossref","first-page":"27","DOI":"10.20517\/rdodj.2023.38","article-title":"Overcoming challenges in sustaining newborn screening: The Philippine Newborn Screening System","volume":"2","author":"Padilla","year":"2023","journal-title":"Rare Dis. Orphan Drugs J."},{"key":"ref_635","doi-asserted-by":"crossref","first-page":"S26","DOI":"10.11622\/smedj.2021073","article-title":"Evolution and expansion of newborn screening programmes in Singapore","volume":"62","author":"Rajadurai","year":"2021","journal-title":"Singap. Med. J."},{"key":"ref_636","doi-asserted-by":"crossref","first-page":"934","DOI":"10.47102\/annals-acadmedsg.2020618","article-title":"Screening for congenital hypothyroidism","volume":"49","author":"Lau","year":"2020","journal-title":"Ann. Acad. Med. Singap."},{"key":"ref_637","doi-asserted-by":"crossref","first-page":"937","DOI":"10.47102\/annals-acadmedsg.2020471","article-title":"Association of cord blood thyroid-stimulating hormone levels with maternal, delivery and infant factors","volume":"49","author":"Tan","year":"2020","journal-title":"Ann. Acad. Med. Singap."},{"key":"ref_638","doi-asserted-by":"crossref","first-page":"794221","DOI":"10.3389\/fimmu.2021.794221","article-title":"Implementation of universal newborn screening for severe combined immunodeficiency in Singapore while continuing routine Bacille-Calmette-Guerin vaccination given at birth","volume":"12","author":"Chan","year":"2022","journal-title":"Front. Immunol."},{"key":"ref_639","unstructured":"Family Health Bureau (2017). National Strategic Plan, Maternal and Newborn Health, 2017\u20132025."},{"key":"ref_640","doi-asserted-by":"crossref","first-page":"13","DOI":"10.4038\/sjdem.v8i2.7361","article-title":"Establishment of National programme on newborn screening for congenital hypothyroidism","volume":"8","author":"Amarasena","year":"2018","journal-title":"Sri Lanka J. Diab. Endocrinol. Metabol."},{"key":"ref_641","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1016\/j.vhri.2021.01.001","article-title":"Cost-effective analysis of the congenital hypothyroidism screening program in Sri Lanka","volume":"24","author":"Karunarathna","year":"2021","journal-title":"Value Health Reg. Issues"},{"key":"ref_642","doi-asserted-by":"crossref","first-page":"1131","DOI":"10.1515\/jpem-2020-0681","article-title":"Presenting status of children with classical congenital adrenal hyperplasia over two decades (1999\u20132018) in the absence of newborn screening in Sri Lanka","volume":"34","author":"Seneviratne","year":"2021","journal-title":"J. Pediatr. Endocrinol. Metab."},{"key":"ref_643","doi-asserted-by":"crossref","first-page":"281","DOI":"10.21037\/atm.2019.05.47","article-title":"Newborn screening: Taiwanese experience","volume":"7","author":"Chien","year":"2019","journal-title":"Ann. Transl. Med."},{"key":"ref_644","doi-asserted-by":"crossref","unstructured":"Hwu, W.L., and Chien, Y.H. (2020). Development of newborn screening for Pompe Disease. Int. J. Neonatal Screen., 6.","DOI":"10.3390\/ijns6010005"},{"key":"ref_645","doi-asserted-by":"crossref","unstructured":"Chiang, S.C., Chien, Y.H., Chang, K.L., Lee, C., and Hwu, W.L. (2020). The timely needs for infantile onset Pompe disease newborn screening-practice in Taiwan. Int. J. Neonatal Screen., 6.","DOI":"10.3390\/ijns6020030"},{"key":"ref_646","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1016\/j.jpeds.2021.12.072","article-title":"Outcome of later-onset Pompe disease identified through newborn screening","volume":"244","author":"Lee","year":"2022","journal-title":"J. Pediatr."},{"key":"ref_647","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1186\/s13023-020-1322-z","article-title":"Newborn screening for Morquio disease and other lysosomal storage diseases: Results from the 8-plex assay for 70,000 newborns","volume":"15","author":"Chien","year":"2020","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_648","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1016\/j.jpeds.2018.09.063","article-title":"Taiwan national newborn screening program by tandem mass spectrometry for mucopolysaccharidoses types I, II, and VI","volume":"205","author":"Chan","year":"2019","journal-title":"J. Pediatr."},{"key":"ref_649","doi-asserted-by":"crossref","unstructured":"Lin, H.Y., Chang, Y.H., Lee, C.L., Tu, Y.R., Lo, Y.T., Hung, P.W., Niu, D.M., Liu, M.Y., Liu, H.Y., and Chen, H.J. (2022). Newborn screening program for mucopolysaccharidosis type II and long-term follow-up of the screen-positive subjects in Taiwan. J. Pers. Med., 12.","DOI":"10.3390\/jpm12071023"},{"key":"ref_650","doi-asserted-by":"crossref","first-page":"100902","DOI":"10.1016\/j.ymgmr.2022.100902","article-title":"High incidence of null variants identified from newborn screening of X-linked adrenoleukodystrophy in Taiwan","volume":"32","author":"Chen","year":"2022","journal-title":"Mol. Genet. Metab. Rep."},{"key":"ref_651","doi-asserted-by":"crossref","first-page":"4563","DOI":"10.1007\/s10072-022-06128-2","article-title":"Duchenne muscular dystrophy newborn screening: The first 50,000 newborns screened in Taiwan","volume":"43","author":"Chien","year":"2022","journal-title":"Neurol. Sci."},{"key":"ref_652","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1038\/s41436-020-00987-w","article-title":"CMAP changes upon symptom onset and during treatment in spinal muscular atrophy patients: Lessons learned from newborn screening","volume":"23","author":"Weng","year":"2021","journal-title":"Genet. Med."},{"key":"ref_653","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1016\/j.ymgme.2022.06.007","article-title":"Improved diagnosis of citrin deficiency by newborn screening using a molecular second-tier test","volume":"136","author":"Chen","year":"2022","journal-title":"Mol. Genet. Metab."},{"key":"ref_654","doi-asserted-by":"crossref","first-page":"1151","DOI":"10.1038\/s41390-023-02585-3","article-title":"The prognosis of citrin deficiency differs between early-identified newborn and later-onset symptomatic infants","volume":"94","author":"Chen","year":"2023","journal-title":"Pediatr. Res."},{"key":"ref_655","doi-asserted-by":"crossref","first-page":"e2007","DOI":"10.1002\/mgg3.2007","article-title":"Asymptomatic ASS1 carriers with high blood citrulline levels","volume":"10","author":"Chen","year":"2022","journal-title":"Mol. Genet. Genomic Med."},{"key":"ref_656","doi-asserted-by":"crossref","first-page":"418","DOI":"10.1097\/MPG.0000000000003701","article-title":"A pilot study of biliary atresia newborn screening using dried blood spot matrix metalloproteinase-7","volume":"76","author":"Chien","year":"2023","journal-title":"J. Pediatr. Gastroenterol. Nutr."},{"key":"ref_657","first-page":"179","article-title":"Phenylketonuria detected by the neonatal screening program in Thailand","volume":"34","author":"Pangkanon","year":"2003","journal-title":"Southeast Asian J. Trop. Med. Public Health"},{"key":"ref_658","unstructured":"CTN News (2023, November 08). Thailand\u2019s Free Newborn Screening for 24 Rare Conditions. Available online: https:\/\/www.chiangraitimes.com\/news\/thailands-free-newborn-screening-for-24-rare-conditions\/?amp=1."},{"key":"ref_659","unstructured":"Wattanasirichaigoon, D. Personal communication."},{"key":"ref_660","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1515\/jpem-2017-0340","article-title":"The etiologies and incidences of congenital hypothyroidism before and after neonatal TSH screening program implementation: A study in southern Thailand","volume":"31","author":"Jaruratanasirikul","year":"2018","journal-title":"J. Pediatr. Endocrinol. Metab."},{"key":"ref_661","doi-asserted-by":"crossref","first-page":"AB133","DOI":"10.21037\/atm.2017.s133","article-title":"Expanded newborn screening program in Thailand","volume":"5","author":"Liammongkolkul","year":"2017","journal-title":"Ann. Transl. Med."},{"key":"ref_662","doi-asserted-by":"crossref","unstructured":"Wilaiwongsathien, K., Wattanasirichaigoon, D., Rattanasiri, S., Aonnuam, C., Tangshewinsirikul, C., and Tim-Aroon, T. (2023). Parental awareness, knowledge, and attitudes regarding current and future newborn bloodspot screening: The first report from Thailand. Int. J. Neonatal Screen., 9.","DOI":"10.3390\/ijns9020025"},{"key":"ref_663","unstructured":"(2023, November 15). Family Medical Practice Vietnam. Baby\u2019s First Test. Available online: https:\/\/fmp.bliss.build\/hcmc\/en\/news\/babys-first-test."},{"key":"ref_664","unstructured":"(2023, June 20). Vietnam Plus. Prenatal, Newborn Screening Programme Helps Improve Population Quality. Available online: https:\/\/en.vietnamplus.vn\/prenatal-newborn-screening-programme-helps-improve-population-quality\/250241.vnp."},{"key":"ref_665","doi-asserted-by":"crossref","first-page":"e20220011","DOI":"10.1590\/2326-4594-jiems-2022-0011","article-title":"Expected benefits and challenges of using economic evaluations to make decisions about the content of newborn screening programs in Vietnam: A scoping review of the literature","volume":"11","author":"Ho","year":"2023","journal-title":"J. Inborn Errors Metab. Screen."},{"key":"ref_666","doi-asserted-by":"crossref","unstructured":"Can, N.T.B., Tran, D.M., Bui, T.P., Nguyen, K.N., Nguyen, H.H., Nguyen, T.V., Hwu, W.L., Tomatsu, S., and Vu, D.C. (2021). Molecular analysis of Vietnamese patients with mucopolysaccharidosis type I. Life, 11.","DOI":"10.3390\/life11111162"},{"key":"ref_667","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1007\/s10545-017-0026-6","article-title":"Characterization and outcome of 41 patients with beta-ketothiolase deficiency: 10 years\u2019 experience of a medical center in northern Vietnam","volume":"40","author":"Yamaguchi","year":"2017","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_668","doi-asserted-by":"crossref","unstructured":"Loeber, J.G., Platis, D., Zetterstr\u00f6m, R.H., Almashanu, S., Boemer, F., Bonham, J.R., Borde, P., Brincat, I., Cheillan, D., and Dekkers, E. (2021). Neonatal screening in Europe revisited: An ISNS perspective on the current state and developments since 2010. Int. J. Neonatal Screen., 7.","DOI":"10.3390\/ijns7010015"},{"key":"ref_669","doi-asserted-by":"crossref","first-page":"648939","DOI":"10.3389\/fped.2021.648939","article-title":"Current status of newborn screening in Southeastern Europe","volume":"9","author":"Koracin","year":"2021","journal-title":"Front. Pediatr."},{"key":"ref_670","doi-asserted-by":"crossref","unstructured":"Sikonja, J., Groselj, U., Scarpa, M., la Marca, G., Cheillan, D., K\u00f6lker, S., Zetterstr\u00f6m, R.H., Ko\u017eich, V., Le Cam, Y., and Gumus, G. (2022). Towards achieving equity and innovation in newborn screening across Europe. Int. J. Neonatal Screen., 8.","DOI":"10.3390\/ijns8020031"},{"key":"ref_671","doi-asserted-by":"crossref","first-page":"821","DOI":"10.1080\/14992027.2021.1886351","article-title":"Assessment of hearing screening programmes across 47 countries or regions I: Provision of newborn hearing screening","volume":"60","author":"Mackey","year":"2021","journal-title":"Int. J. Audiol."},{"key":"ref_672","doi-asserted-by":"crossref","first-page":"831","DOI":"10.1080\/14992027.2021.1886351","article-title":"Assessment of hearing screening programmes across 47 countries or regions II: Coverage, referral, follow-up and detection rates from newborn hearing screening","volume":"60","author":"Mackey","year":"2021","journal-title":"Int. J. Audiol."},{"key":"ref_673","doi-asserted-by":"crossref","first-page":"841","DOI":"10.1080\/14992027.2021.1886351","article-title":"Assessment of hearing screening programmes across 47 countries or regions III: Provision of childhood hearing screening after the newborn period","volume":"60","author":"Mackey","year":"2021","journal-title":"Int. J. Audiol."},{"key":"ref_674","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1038\/ejhg.2013.90","article-title":"A framework to start the debate on neonatal screening policies in the EU: An Expert Opinion Document","volume":"22","author":"Cornel","year":"2014","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_675","doi-asserted-by":"crossref","first-page":"603","DOI":"10.1007\/s10545-012-9483-0","article-title":"Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 1. From blood spot to screening result","volume":"35","author":"Loeber","year":"2012","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_676","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1007\/s10545-012-9484-z","article-title":"Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 2. From screening laboratory results to treatment, follow-up and quality assurance","volume":"35","author":"Burgard","year":"2012","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_677","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1186\/1750-1172-9-30","article-title":"The European Union Committee of Experts on Rare Diseases: Three productive years at the service of the rare disease community","volume":"9","author":"Rodwell","year":"2014","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_678","unstructured":"EUCERD\u2014European Union Committee of Experts on Rare Diseases (2023, March 26). EUCERD Opinion on Potential Areas of European Collaboration in the Field of New Born Screening\u2014July 2013. Available online: http:\/\/www.rd-action.eu\/eucerd\/RDACTION_EUCERDARCHIVE.html."},{"key":"ref_679","doi-asserted-by":"crossref","unstructured":"Loeber, J.G. (2018). European Union should actively stimulate and harmonise neonatal screening initiatives. Int. J. Neonatal Screen., 4.","DOI":"10.3390\/ijns4040032"},{"key":"ref_680","unstructured":"EURORDIS Rare Diseases Newborn Screening (2023, March 26). Key Principles for Newborn Screening. A EURORDIS Position Paper. January 2021. Available online: http:\/\/eurordis.org\/newbornscreening."},{"key":"ref_681","unstructured":"Screen4Rare (2023, March 26). Call to Action: Newborn Screening for Rare Diseases. Available online: https:\/\/screen4rare.org\/calltoaction\/."},{"key":"ref_682","doi-asserted-by":"crossref","first-page":"100311","DOI":"10.1016\/j.lanepe.2022.100311","article-title":"Newborn screening as a fully integrated system to stimulate equity in neonatal screening in Europe","volume":"13","author":"Scarpa","year":"2022","journal-title":"Lancet Reg. Health Eur."},{"key":"ref_683","unstructured":"Screen4Rare (2023, December 27). Adherence Principles. Available online: https:\/\/screen4rare.org\/wp-content\/uploads\/2023\/10\/Adherence-Principles-Screen4Rare-2023.pdf)."},{"key":"ref_684","unstructured":"MetabERN European Reference Network for Hereditary Metabolic Disorders (2023, March 26). Rare Diseases Events under the Czech EU Council Presidency. Available online: https:\/\/metab.ern-net.eu\/rare-diseases-events-under-the-czech-eu-council-presidency\/."},{"key":"ref_685","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1186\/s13023-015-0283-0","article-title":"Phenylketonuria screening and management in southeastern Europe\u2014Survey results from 11 countries","volume":"10","author":"Groselj","year":"2015","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_686","doi-asserted-by":"crossref","unstructured":"IJzebrink, A., van Dijk, T., Frankov\u00e1, V., Loeber, G., Ko\u017eich, V., Henneman, L., and Jansen, M. (2021). Informing Parents about newborn screening: A European comparison study. Int. J. Neonatal Screen., 7.","DOI":"10.3390\/ijns7010013"},{"key":"ref_687","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1038\/s41431-020-00716-6","article-title":"Regulatory landscape of providing information on newborn screening to parents across Europe","volume":"29","author":"Driscoll","year":"2021","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_688","doi-asserted-by":"crossref","unstructured":"Burlina, A., Jones, S.A., Chakrapani, A., Church, H.J., Heales, S., Wu, T.H.Y., Morton, G., Roberts, P., Sluys, E.F., and Cheillan, D. (2022). A new approach to objectively evaluate inherited metabolic diseases for inclusion on newborn screening programmes. Int. J. Neonatal Screen., 8.","DOI":"10.3390\/ijns8020025"},{"key":"ref_689","doi-asserted-by":"crossref","unstructured":"Jones, S.A., Cheillan, D., Chakrapani, A., Church, H.J., Heales, S., Wu, T.H.Y., Morton, G., Roberts, P., Sluys, E.F., and Burlina, A. (2022). Application of a novel algorithm for expanding newborn screening for inherited metabolic disorders across Europe. Int. J. Neonatal Screen., 8.","DOI":"10.3390\/ijns8010020"},{"key":"ref_690","doi-asserted-by":"crossref","unstructured":"Maase, R., Jansen, M.E., Heijnen, M.-L., and Dekkers, E. (2022). Comment on Jones et al. Application of a novel algorithm for expanding newborn screening for inherited metabolic disorders across Europe. Int. J. Neonatal Screen., 8, Comment in Int. J. Neonatal Screen. 2023, 9, 7.","DOI":"10.3390\/ijns9010007"},{"key":"ref_691","doi-asserted-by":"crossref","unstructured":"Jones, S.A., Cheillan, D., Chakrapani, A., Church, H.J., Heales, S., Wu, T.H.Y., Morton, G., Roberts, P., Sluys, E.F., and Burlina, A. (2022). Reply to Maase et al. Comment on \u201cJones et al. Application of a novel algorithm for expanding newborn screening for inherited metabolic disorders across Europe. Int. J. Neonatal Screen., 8, Erratum in Int. J. Neonatal Screen. 2023, 9, 8.","DOI":"10.3390\/ijns9010008"},{"key":"ref_692","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1016\/j.nmd.2019.11.002","article-title":"244th ENMC international workshop: Newborn screening in spinal muscular atrophy May 10-12, 2019, Hoofdorp, The Netherlands","volume":"30","author":"Dangouloff","year":"2020","journal-title":"Neuromuscul Disord."},{"key":"ref_693","doi-asserted-by":"crossref","first-page":"574","DOI":"10.1016\/j.nmd.2021.03.007","article-title":"Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go","volume":"31","author":"Dangouloff","year":"2021","journal-title":"Neuromuscul. Disord."},{"key":"ref_694","unstructured":"SMA NBS Alliance (2023, March 26). European Alliance for Newborn Screening in Spinal Muscular Atrophy. Available online: https:\/\/www.sma-screening-alliance.org\/."},{"key":"ref_695","first-page":"105","article-title":"Newborn screening programmes in Europe, arguments and efforts regarding harmonisation: Focus on organic acidurias","volume":"32","author":"Loeber","year":"2017","journal-title":"JIMD Rep."},{"key":"ref_696","doi-asserted-by":"crossref","first-page":"648","DOI":"10.1111\/bjh.15600","article-title":"Newborn screening for sickle cell disease in Europe: Recommendations from a Pan-European Consensus Conference","volume":"183","author":"Lobitz","year":"2018","journal-title":"Br. J. Haematol."},{"key":"ref_697","doi-asserted-by":"crossref","unstructured":"Daniel, Y., Elion, J., Allaf, B., Badens, C., Bouva, M.J., Brincat, I., Cela, E., Coppinger, C., de Montalembert, M., and Gulbis, B. (2019). Newborn screening for sickle cell disease in Europe. Int. J. Neonatal Screen., 5.","DOI":"10.3390\/ijns5010015"},{"key":"ref_698","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1016\/j.jcf.2016.12.012","article-title":"The expansion and performance of national newborn screening programmes for cystic fibrosis in Europe","volume":"16","author":"Barben","year":"2017","journal-title":"J. Cyst. Fibros."},{"key":"ref_699","doi-asserted-by":"crossref","unstructured":"Sommerburg, O., and Hammermann, J. (2020). Pancreatitis-associated protein in neonatal screening for cystic fibrosis: Strengths and weaknesses. Int. J. Neonatal Screen., 6.","DOI":"10.3390\/ijns6020028"},{"key":"ref_700","doi-asserted-by":"crossref","first-page":"484","DOI":"10.1016\/j.jcf.2022.09.012","article-title":"European survey of newborn bloodspot screening for CF: Opportunity to address challenges and improve performance","volume":"22","author":"Munck","year":"2023","journal-title":"J. Cyst. Fibros."},{"key":"ref_701","doi-asserted-by":"crossref","unstructured":"Naehrlich, L. (2020). The changing face of cystic fibrosis and its implications for screening. Int. J. Neonatal Screen., 6.","DOI":"10.3390\/ijns6030054"},{"key":"ref_702","doi-asserted-by":"crossref","first-page":"614","DOI":"10.1016\/j.jcf.2019.04.004","article-title":"International approaches for delivery of positive newborn bloodspot screening results for CF","volume":"18","author":"Chudleigh","year":"2019","journal-title":"J. Cyst. Fibros."},{"key":"ref_703","doi-asserted-by":"crossref","unstructured":"Munck, A., Southern, K.W., Murphy, J., de Winter-de Groot, K.M., Gartner, S., Karadag, B., Kashirskaya, N., Linnane, B., Proesmans, M., and Sands, D. (2023). Cystic Fibrosis Cases Missed by Newborn Bloodspot Screening\u2014Towards a Consistent Definition and Data Acquisition. Int. J. Neonatal Screen., 9.","DOI":"10.3390\/ijns9040065"},{"key":"ref_704","doi-asserted-by":"crossref","first-page":"820","DOI":"10.1016\/j.jcf.2021.02.006","article-title":"Defining key outcomes to evaluate performance of newborn screening programmes for cystic fibrosis","volume":"20","author":"Munck","year":"2021","journal-title":"J. Cyst. Fibros."},{"key":"ref_705","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1007\/s12687-020-00488-y","article-title":"Neonatal and carrier screening for rare diseases: How innovation challenges screening criteria worldwide","volume":"12","author":"Cornel","year":"2021","journal-title":"J. Community Genet."},{"key":"ref_706","doi-asserted-by":"crossref","first-page":"832063","DOI":"10.3389\/fendo.2022.832063","article-title":"Rare disease registries are key to evidence-based personalized medicine: Highlighting the European experience","volume":"13","author":"Gleich","year":"2022","journal-title":"Front. Endocrinol."},{"key":"ref_707","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1080\/13625187.2022.2088729","article-title":"Migration and newborn screening: Time to build on the European Asylum, Integration and Migration Fund?","volume":"27","author":"Tsagkaris","year":"2022","journal-title":"Eur. J. Contracept. Reprod. Health Care"},{"key":"ref_708","doi-asserted-by":"crossref","unstructured":"Kou\u0159il, \u0160., de Sousa, J., Fa\u010devicov\u00e1, K., Gardlo, A., Muehlmann, C., Nordhausen, K., Friedeck\u00fd, D., and Adam, T. (2023). Multivariate independent component analysis identifies patients in newborn screening equally to adjusted reference ranges. Int. J. Neonatal Screen., 9.","DOI":"10.3390\/ijns9040060"},{"key":"ref_709","doi-asserted-by":"crossref","first-page":"110039","DOI":"10.1016\/j.ijporl.2020.110039","article-title":"Implementation of a neonatal hearing screening programme in three provinces in Albania","volume":"134","author":"Qirjazi","year":"2020","journal-title":"Int. J. Pediatr. Otorhinolaryngol."},{"key":"ref_710","unstructured":"Bartling, T. (2023, April 18). Infant Mortality and Nationwide Newborn Bloodspot Screening Programs in the European Union. Instituti I Sh\u00ebndetit Publik, Available online: https:\/\/www.ishp.gov.al\/infant-mortality-and-nationwide-newborn-bloodspot-screening-programs-in-the-european-union\/."},{"key":"ref_711","doi-asserted-by":"crossref","first-page":"905","DOI":"10.1038\/s41430-018-0298-4","article-title":"Neonatal thyrotropin (TSH) screening as a tool for monitoring iodine nutrition in Armenia","volume":"73","author":"Hutchings","year":"2019","journal-title":"Eur. J. Clin. Nutr."},{"key":"ref_712","unstructured":"Armenia News\u2014NEWS.am (2023, April 18). Parliament Speaker Briefs Turkmenistan Delegation on Newborn Screening in Armenia. Available online: https:\/\/news.am\/eng\/news\/483393.html."},{"key":"ref_713","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1002\/jimd.12442","article-title":"100\u2009years of inherited metabolic disorders in Austria\u2014A national registry of minimal birth prevalence, diagnosis, and clinical outcome of inborn errors of metabolism in Austria between 1921 and 2021","volume":"45","author":"Ramoser","year":"2022","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_714","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1515\/jpm-2013-0113","article-title":"Austrian newborn screening program: A perspective of five decades","volume":"42","author":"Pollak","year":"2014","journal-title":"J. Perinat. Med."},{"key":"ref_715","doi-asserted-by":"crossref","unstructured":"Zeyda, M., Schanzer, A., Basek, P., Bauer, V., Eber, E., Ellemunter, H., Kallinger, M., Riedler, J., Thir, C., and Wadlegger, F. (2021). Cystic fibrosis newborn screening in Austria using PAP and the numeric product of PAP and IRT concentrations as second-tier parameters. Diagnostics, 11.","DOI":"10.3390\/diagnostics11020299"},{"key":"ref_716","unstructured":"Medical University of Vienna (2023, April 06). Neonatal Screening: Programme Successfully Expanded\u2014Screening for Spinal Muscular Atrophy (SMA) and Congenital Immunodeficiencies (SCID). Available online: https:\/\/www.meduniwien.ac.at\/web\/en\/about-us\/news\/2022\/news-in-june-2022\/neugeborenen-screening-erweiterung-erfolgreich-umgesetzt\/."},{"key":"ref_717","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1258\/jms.2012.012024","article-title":"Neonatal screening for congenital hypothyroidism in East Azerbaijan, Iran: The first report","volume":"19","author":"Zeinalzadeh","year":"2012","journal-title":"J. Med. Screen."},{"key":"ref_718","first-page":"56","article-title":"Genetic screening of newborns in Baku for hereditary hemoglobinopathies","volume":"19","author":"Babaev","year":"2020","journal-title":"Med. Genet."},{"key":"ref_719","doi-asserted-by":"crossref","first-page":"284","DOI":"10.33619\/2414-2948\/82\/32","article-title":"GALT enzyme deficiency identification in newborns in Azerbaijan","volume":"8","author":"Hajiyeva","year":"2022","journal-title":"Bull. Sci. Pract."},{"key":"ref_720","unstructured":"UNICEF (2024, January 02). Country Office Annual Report 2022\u2014Azerbaijan. Available online: https:\/\/www.unicef.org\/media\/135431\/file\/Aberbaijan-2022-COAR.pdf."},{"key":"ref_721","doi-asserted-by":"crossref","first-page":"2326409817744231","DOI":"10.1177\/2326409817744231","article-title":"Newborn screening for lysosomal storage disorders in Belgium. The importance of sex- and age-dependent reference ranges","volume":"5","author":"Eyskens","year":"2017","journal-title":"J. Inborn Errors Metab. Screen."},{"key":"ref_722","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1016\/j.nmd.2019.02.003","article-title":"Newborn screening for SMA in Southern Belgium","volume":"29","author":"Boemer","year":"2019","journal-title":"Neuromuscul. Disord."},{"key":"ref_723","doi-asserted-by":"crossref","first-page":"19922","DOI":"10.1038\/s41598-021-99496-2","article-title":"Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium","volume":"11","author":"Boemer","year":"2021","journal-title":"Sci. Rep."},{"key":"ref_724","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1016\/j.nmd.2023.11.013","article-title":"Cost-effectiveness of spinal muscular atrophy newborn screening based on real-world data in Belgium","volume":"34","author":"Dangouloff","year":"2024","journal-title":"Neuromuscul. Disord."},{"key":"ref_725","doi-asserted-by":"crossref","unstructured":"Gulbis, B., L\u00ea, P.-Q., Ketelslegers, O., Dresse, M.-F., Adam, A.-S., Cotton, F., Boemer, F., Bours, V., Minon, J.-M., and Ferster, A. (2018). Neonatal screening for sickle cell disease in Belgium for more than 20 Years: An experience for comprehensive care improvement. Int. J. Neonatal Screen., 4.","DOI":"10.3390\/ijns4040037"},{"key":"ref_726","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1080\/17843286.2019.1604472","article-title":"A model-based economic evaluation of four newborn screening strategies for cystic fibrosis in Flanders, Belgium","volume":"75","author":"Schmidt","year":"2020","journal-title":"Acta Clin. Belg."},{"key":"ref_727","doi-asserted-by":"crossref","first-page":"1070","DOI":"10.1016\/j.nmd.2021.07.008","article-title":"Newborn screening of neuromuscular diseases","volume":"31","author":"Dangouloff","year":"2021","journal-title":"Neuromuscul. Disord."},{"key":"ref_728","doi-asserted-by":"crossref","first-page":"308","DOI":"10.3389\/fpubh.2017.00308","article-title":"Whole-genome sequencing in newborn screening-attitudes and opinions of Bulgarian pediatricians and geneticists","volume":"5","author":"Iskrov","year":"2017","journal-title":"Front. Public Health"},{"key":"ref_729","doi-asserted-by":"crossref","first-page":"339","DOI":"10.5114\/ceji.2022.124396","article-title":"Implementation of TREC\/KREC detection protocol for newborn SCID screening in Bulgaria: A pilot study","volume":"47","author":"Marinova","year":"2022","journal-title":"Cent. Eur. J. Immunol."},{"key":"ref_730","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1007\/s12041-022-01399-2","article-title":"Arginase deficiency in Bulgaria: First cases and potential endemic region for the disorder","volume":"102","author":"Atemin","year":"2023","journal-title":"J. Genet."},{"key":"ref_731","unstructured":"Roque, B. (2023, April 19). Front Line Genomics. World of Genomics: Croatia. Available online: https:\/\/frontlinegenomics.com\/world-of-genomics-croatia\/."},{"key":"ref_732","unstructured":"N1 Newsnight (2024, January 02). Croatia Introduces SMA Testing for Every Newborn. Available online: https:\/\/n1info.hr\/english\/news\/croatia-introduces-sma-testing-for-every-newborn\/."},{"key":"ref_733","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1515\/JPEM.2005.18.5.453","article-title":"High prevalence of congenital hypothyroidism in the Greek Cypriot population: Results of the neonatal screening program 1990\u20132000","volume":"18","author":"Skordis","year":"2005","journal-title":"J. Pediatr. Endocrinol. Metab."},{"key":"ref_734","unstructured":"Ko\u017eich, V. (2023, April 19). Focus on National Experiences and Best Practices Czech Republic, Viktor Ko\u017eich. YouTube. Available online: https:\/\/www.youtube.com\/watch?v=9MDNHzmcqzs."},{"key":"ref_735","unstructured":"General University Hospital in Prague (2023, April 19). Pilot Screening Reveals New Disease. Available online: https:\/\/www.vfn.cz\/en\/aktuality\/pilotni-screening-odhaluje-nove-nemoci\/."},{"key":"ref_736","doi-asserted-by":"crossref","first-page":"153","DOI":"10.21101\/cejph.a5441","article-title":"Epidemiology of rare diseases detected by newborn screening in the Czech Republic","volume":"27","author":"David","year":"2019","journal-title":"Cent. Eur. J. Public Health"},{"key":"ref_737","doi-asserted-by":"crossref","first-page":"1697","DOI":"10.1007\/s00431-018-3230-y","article-title":"Neonatal screening in the Czech Republic: Increased prevalence of selected diseases in low birthweight neonates","volume":"177","author":"David","year":"2018","journal-title":"Eur. J. Pediatr."},{"key":"ref_738","doi-asserted-by":"crossref","first-page":"24","DOI":"10.23736\/S2724-5276.20.05795-3","article-title":"Newborn screening-detected 21-hydroxylase deficiency: Growth pattern is not associated with the genotype","volume":"76","author":"David","year":"2024","journal-title":"Minerva Pediatr."},{"key":"ref_739","doi-asserted-by":"crossref","unstructured":"Frankov\u00e1, V., Dohnalov\u00e1, A., Pe\u0161kov\u00e1, K., Herm\u00e1nkov\u00e1, R., O\u2019Driscoll, R., Je\u0161ina, P., and Ko\u017eich, V. (2019). Factors influencing parental awareness about newborn screening. Int. J. Neonatal Screen., 5.","DOI":"10.3390\/ijns5030035"},{"key":"ref_740","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1016\/j.ymgme.2012.06.006","article-title":"Biochemical screening of 504,049 newborns in Denmark, the Faroe Islands and Greenland--experience and development of a routine program for expanded newborn screening","volume":"107","author":"Lund","year":"2012","journal-title":"Mol. Genet. Metab."},{"key":"ref_741","first-page":"A06190341","article-title":"Danish expanded newborn screening is a successful preventive public health programme","volume":"67","author":"Lund","year":"2020","journal-title":"Dan. Med. J."},{"key":"ref_742","doi-asserted-by":"crossref","first-page":"549","DOI":"10.1002\/ppul.24564","article-title":"Cystic fibrosis newborn screening in Denmark: Experience from the first 2 years","volume":"55","author":"Skov","year":"2020","journal-title":"Pediatr. Pulmonol."},{"key":"ref_743","doi-asserted-by":"crossref","unstructured":"B\u00e6kvad-Hansen, M., Adamsen, D., Bybjerg-Grauholm, J., and Hougaard, D.M. (2021). Implementation of SCID screening in Denmark. Int. J. Neonatal Screen., 7.","DOI":"10.3390\/ijns7030054"},{"key":"ref_744","doi-asserted-by":"crossref","first-page":"e14","DOI":"10.1016\/j.jcf.2020.02.008","article-title":"First case of cystic fibrosis in Greenland\u2014Diagnosed by neonatal screening","volume":"19","author":"Skov","year":"2020","journal-title":"J. Cyst. Fibros."},{"key":"ref_745","doi-asserted-by":"crossref","unstructured":"Gutierrez-Mateo, C., Timonen, A., Vaahtera, K., Jaakkola, M., Hougaard, D.M., Bybjerg-Grauholm, J., Baekvad-Hansen, M., Adamsen, D., Filippov, G., and Dallaire, S. (2019). Development of a multiplex real-time PCR assay for the newborn screening of SCID, SMA, and XLA. Int. J. Neonatal Screen., 5.","DOI":"10.3390\/ijns5040039"},{"key":"ref_746","doi-asserted-by":"crossref","unstructured":"Cohen, A.S., Baurek, M., Lund, A.M., Dun\u00f8, M., and Hougaard, D.M. (2019). Including classical galactosaemia in the expanded newborn screening panel using tandem mass spectrometry for galactose-1-phosphate. Int. J. Neonatal Screen., 5.","DOI":"10.3390\/ijns5020019"},{"key":"ref_747","doi-asserted-by":"crossref","unstructured":"Lund, A.M., Wibrand, F., Skogstrand, K., B\u00e6kvad-Hansen, M., Gregersen, N., Andresen, B.S., Hougaard, D.M., Dun\u00f8, M., and Olsen, R.K.J. (2021). Use of molecular genetic analyses in Danish routine newborn screening. Int. J. Neonatal Screen., 7.","DOI":"10.3390\/ijns7030050"},{"key":"ref_748","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1159\/000522230","article-title":"Neonatal screening for congenital adrenal hyperplasia in Denmark: 10 years of experience","volume":"95","author":"Berglund","year":"2022","journal-title":"Horm. Res. Paediatr."},{"key":"ref_749","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1038\/s41431-018-0276-2","article-title":"Newborn dried blood spot samples in Denmark: The hidden figures of secondary use and research participation","volume":"27","author":"Nordfalk","year":"2019","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_750","doi-asserted-by":"crossref","first-page":"1625","DOI":"10.1038\/s41431-019-0437-y","article-title":"Response to \u201cNewborn dried blood spot samples in Denmark: The hidden figures of secondary use and research participation\u201d","volume":"27","author":"Hougaard","year":"2019","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_751","doi-asserted-by":"crossref","first-page":"58","DOI":"10.18332\/ejm\/152322","article-title":"Mothering a population: How Danish mothers experience newborn dried blood spot samples and their considerations about re-use of samples for research purposes","volume":"6","author":"Nordfalk","year":"2022","journal-title":"Eur. J. Midwifery"},{"key":"ref_752","doi-asserted-by":"crossref","first-page":"213","DOI":"10.2147\/CLEP.S392416","article-title":"A review of major Danish biobanks: Advantages and possibilities of health research in Denmark","volume":"15","author":"Kjaergaard","year":"2023","journal-title":"Clin. Epidemiol."},{"key":"ref_753","doi-asserted-by":"crossref","unstructured":"Timonen, A., Lloyd-Puryear, M., Hougaard, D.M., Meri\u00f6, L., M\u00e4kinen, P., Laitala, V., P\u00f6l\u00f6nen, T., Skogstrand, K., Kennedy, A., and Airenne, S. (2019). Duchenne muscular dystrophy newborn screening: Evaluation of a new GSP\u00ae Neonatal Creatine Kinase-MM Kit in a US and Danish population. Int. J. Neonatal Screen., 5.","DOI":"10.3390\/ijns5030027"},{"key":"ref_754","doi-asserted-by":"crossref","first-page":"1378","DOI":"10.1007\/s12031-020-01787-2","article-title":"Studying autism using untargeted metabolomics in newborn screening samples","volume":"71","author":"Courraud","year":"2021","journal-title":"J. Mol. Neurosci."},{"key":"ref_755","doi-asserted-by":"crossref","first-page":"685","DOI":"10.1021\/jasms.2c00358","article-title":"Effects of long-term storage on the biobanked neonatal dried blood spot Mmetabolome","volume":"34","author":"MacSween","year":"2023","journal-title":"J. Am. Soc. Mass Spectrom."},{"key":"ref_756","unstructured":"Reinson, K., and Universitas Tartuensis DSpace (2023, April 22). New Diagnostic Methods for Early Detection of Inborn Errors of Metabolism in Estonia. Available online: https:\/\/dspace.ut.ee\/handle\/10062\/62653."},{"key":"ref_757","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.ymgmr.2017.11.002","article-title":"High incidence of low vitamin B12 levels in Estonian newborns","volume":"15","author":"Reinson","year":"2018","journal-title":"Mol. Genet. Metab. Rep."},{"key":"ref_758","first-page":"39","article-title":"Hyperphenylalaninaemias in Estonia: Genotype-phenotype correlation and comparative overview of the patient cohort before and after nation-wide neonatal screening","volume":"40","author":"Reinson","year":"2018","journal-title":"JIMD Rep."},{"key":"ref_759","doi-asserted-by":"crossref","first-page":"796862","DOI":"10.3389\/fgene.2021.796862","article-title":"The birth prevalence of spinal muscular atrophy: A population specific approach in Estonia","volume":"12","author":"Sarv","year":"2021","journal-title":"Front. Genet."},{"key":"ref_760","doi-asserted-by":"crossref","first-page":"604","DOI":"10.1002\/jmd2.12325","article-title":"The prevalence of inherited metabolic disorders in Estonian population over 30\u2009years: A significant increase during study period","volume":"63","author":"Tiivoja","year":"2022","journal-title":"JIMD Rep."},{"key":"ref_761","unstructured":"(2023, April 23). Palveluvalikoima. Summary of a Recommendation by Council for Choices in Health Care in Finland (COHERE Finland)\u2014Screening for Severe Combined Immunodeficiency (SCID) Using a Heel Prick Test for Newborn Babies. Available online: https:\/\/palveluvalikoima.fi\/documents\/1237350\/38358696\/Tiivistelm%C3%A4_SCID+seulonta_en.pdf\/a14177c3-2d0c-dcdd-cbca-2d1c202e4b65\/Tiivistelm%C3%A4_SCID+seulonta_en.pdf?t=1602084321143."},{"key":"ref_762","unstructured":"(2023, April 23). Roche. SMA Screening for Newborns in Europe. Available online: https:\/\/www.roche.com\/stories\/sma-screening-for-newborns-in-europe\/."},{"key":"ref_763","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1186\/s13023-020-01547-w","article-title":"Type 1 tyrosinemia in Finland: A nationwide study","volume":"15","author":"Hiltunen","year":"2020","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_764","doi-asserted-by":"crossref","first-page":"649","DOI":"10.1038\/s41390-022-02118-4","article-title":"Incidence of primary congenital hypothyroidism over 24 years in Finland","volume":"93","author":"Danner","year":"2023","journal-title":"Pediatr. Res."},{"key":"ref_765","first-page":"433","article-title":"Histoire et organisation du programme Fran\u00e7ais de d\u00e9pistage n\u00e9onatal syst\u00e9matiq (1967\u20132020) [History and organization of the French systematic neonatal screening program (1967\u20132020)]","volume":"37","author":"Farriaux","year":"2021","journal-title":"Med. Sci."},{"key":"ref_766","first-page":"457","article-title":"Organisation du d\u00e9pistage n\u00e9onatal en France [Organization of newborn screening in France]","volume":"37","author":"Munck","year":"2021","journal-title":"Med. Sci."},{"key":"ref_767","first-page":"19","article-title":"Pr\u00e9sentation de l\u2019\u00e9tat des lieux du d\u00e9pistage n\u00e9onatal en France [State of play of neonatal screening in France]","volume":"34","author":"Coutant","year":"2018","journal-title":"Med. Sci."},{"key":"ref_768","unstructured":"Haute Autorit\u00e9 de Sant\u00e9 (2023, April 23). \u00c9valuation a priori de l\u2019extension du d\u00e9pistage n\u00e9onatal \u00e0 une ou plusieurs erreurs inn\u00e9es du m\u00e9tabolisme par spectrom\u00e9trie de masse en tandem. Volet 2. Available online: https:\/\/www.has-sante.fr\/jcms\/c_2866458\/fr\/evaluation-a-priori-de-l-extension-du-depistage-neonatal-a-une-ou-plusieurs-erreurs-innees-du-metabolisme-par-spectrometrie-de-masse-en-tandem-volet-2."},{"key":"ref_769","first-page":"468","article-title":"Le d\u00e9pistage de la ph\u00e9nylc\u00e9tonurie en France [Newborn screening of phenylketonuria in France]","volume":"37","author":"Wiedemann","year":"2021","journal-title":"Med. Sci."},{"key":"ref_770","first-page":"500","article-title":"Le d\u00e9pistage n\u00e9onatal de l\u2019hyperplasie cong\u00e9nitale des glandes surr\u00e9nales [Newborn screening for congenital adrenal hyperplasia in France]","volume":"37","author":"Kariyawasam","year":"2021","journal-title":"Med. Sci."},{"key":"ref_771","first-page":"491","article-title":"D\u00e9pistage n\u00e9onatal de la mucoviscidose [Newborn screening for cystic fibrosis in France]","volume":"37","author":"Munck","year":"2021","journal-title":"Med. Sci."},{"key":"ref_772","doi-asserted-by":"crossref","first-page":"eS35","DOI":"10.1016\/S0929-693X(20)30049-X","article-title":"Newborn screening for CF in France: An exemplary national experience","volume":"27","author":"Munck","year":"2020","journal-title":"Arch. Pediatr."},{"key":"ref_773","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1016\/j.arcped.2022.02.001","article-title":"Neonatal screening for congenital hypothyroidism: Time to lower the TSH threshold in France","volume":"29","author":"Levaillant","year":"2022","journal-title":"Arch. Pediatr."},{"key":"ref_774","first-page":"482","article-title":"D\u00e9pistage n\u00e9onatal de la dr\u00e9panocytose en France [Newborn screening for sickle cell disease in France]","volume":"37","author":"Brousse","year":"2021","journal-title":"Med. Sci."},{"key":"ref_775","doi-asserted-by":"crossref","unstructured":"Pinel, J., Bellanger, A., Jamet, C., and Moreau, C. (2023). Information and Parental Consent for French Neonatal Screening: A Qualitative Study on Parental Opinion. Int. J. Neonatal Screen., 9.","DOI":"10.3390\/ijns9020026"},{"key":"ref_776","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1017\/S0266462318000181","article-title":"Ethics evaluation revealing decision-maker motives: A case of neonatal screening","volume":"34","author":"Raimond","year":"2018","journal-title":"Int. J. Technol. Assess. Health Care"},{"key":"ref_777","doi-asserted-by":"crossref","first-page":"918","DOI":"10.1002\/ppul.24634","article-title":"Phenotype of children with inconclusive cystic fibrosis diagnosis after newborn screening","volume":"55","author":"Munck","year":"2020","journal-title":"Pediatr. Pulmonol."},{"key":"ref_778","doi-asserted-by":"crossref","unstructured":"Bergougnoux, A., Lopez, M., and Girodon, E. (2020). The role of extended CFTR gene sequencing in newborn screening for cystic fibrosis. Int. J. Neonatal Screen., 6.","DOI":"10.3390\/ijns6010023"},{"key":"ref_779","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1016\/j.jcf.2021.12.010","article-title":"Reclassifying inconclusive diagnosis after newborn screening for cystic fibrosis. Moving forward","volume":"21","author":"Hatton","year":"2022","journal-title":"J. Cyst. Fibros."},{"key":"ref_780","doi-asserted-by":"crossref","unstructured":"Bienvenu, T., Lopez, M., and Girodon, E. (2020). Molecular diagosis and genetic counseling of cystic fibrosis and related disorders: New challenges. Genes, 11.","DOI":"10.3390\/genes11060619"},{"key":"ref_781","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1177\/0969141317692611","article-title":"Optimization of the French cystic fibrosis newborn screening programme by a centralized tracking process","volume":"25","author":"Munck","year":"2018","journal-title":"J. Med. Screen."},{"key":"ref_782","first-page":"411","article-title":"D\u00e9pistage n\u00e9onatal de la dr\u00e9panocytose et fili\u00e8res d\u2019organisation des soins [Newborn screening of sickle cell disease and management of care]","volume":"69","author":"Allaf","year":"2019","journal-title":"Rev. Prat."},{"key":"ref_783","doi-asserted-by":"crossref","first-page":"e27230","DOI":"10.1002\/pbc.27230","article-title":"New approach to accurate interpretation of sickle cell disease newborn screening by applying multiple of median cutoffs and ratios","volume":"65","author":"Allaf","year":"2018","journal-title":"Pediatr. Blood Cancer"},{"key":"ref_784","first-page":"416","article-title":"Sickle SCAN\u2122 (BioMedomics) fulfills analytical conditions for neonatal screening of sickle cell disease","volume":"76","author":"Mine","year":"2018","journal-title":"Ann. Biol. Clin."},{"key":"ref_785","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1016\/j.arcped.2019.10.006","article-title":"Targeted screening failures in neonates with sickle cell disease in metropolitan France from 2005 to 2017: Number of cases, failure circumstances and health at diagnosis","volume":"26","author":"Remion","year":"2019","journal-title":"Arch. Pediatr."},{"key":"ref_786","doi-asserted-by":"crossref","first-page":"778","DOI":"10.1007\/s10875-018-0550-7","article-title":"Newborn screening for severe combined immunodeficiency: Analytic and clinical performance of the T cell receptor excision circle assay in France (DEPISTREC Study)","volume":"38","author":"Audrain","year":"2018","journal-title":"J. Clin. Immunol."},{"key":"ref_787","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1016\/j.arcped.2020.08.008","article-title":"Review: Why screen for severe combined immunodeficiency disease?","volume":"27","author":"Thomas","year":"2020","journal-title":"Arch. Pediatr."},{"key":"ref_788","doi-asserted-by":"crossref","unstructured":"Audrain, M., and Thomas, C. (2021). Neonatal screening for SCID: The French experience. Int. J. Neonatal Screen., 7.","DOI":"10.3390\/ijns7030042"},{"key":"ref_789","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1186\/s13023-017-0599-z","article-title":"Newborn screening for tyrosinemia type 1 using succinylacetone\u2014A systematic review of test accuracy","volume":"12","author":"Stinton","year":"2017","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_790","doi-asserted-by":"crossref","unstructured":"Lef\u00e8vre, C.R., Labarthe, F., Dufour, D., Moreau, C., Faoucher, M., Rollier, P., Arnoux, J.B., Tardieu, M., Damaj, L., and Bendavid, C. (2023). Newborn screening of primary carnitine deficiency: An overview of worldwide practices and pitfalls to define an algorithm before expansion of newborn screening in France. Int. J. Neonatal Screen., 9.","DOI":"10.3390\/ijns9010006"},{"key":"ref_791","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1111\/dmcn.15286","article-title":"Financial cost and quality of life of patients with spinal muscular atrophy identified by symptoms or newborn screening","volume":"65","author":"Dangouloff","year":"2023","journal-title":"Dev. Med. Child Neurol."},{"key":"ref_792","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1016\/j.arcped.2022.11.012","article-title":"Maternal opioid addiction: A potential cause of elevated 17-OH progesterone in neonatal screening","volume":"30","author":"Legagneur","year":"2023","journal-title":"Arch. Pediatr."},{"key":"ref_793","first-page":"461","article-title":"Les principaux outils biologiques appliqu\u00e9s au d\u00e9pistage n\u00e9onatal\u2014\u00c9tat des lieux et perspectives d\u2019avenir [Main biological tools applied to newborn screening: Landscape and future perspectives]","volume":"37","author":"Cheillan","year":"2021","journal-title":"Med. Sci."},{"key":"ref_794","first-page":"1","article-title":"Newborn screening in Germany","volume":"34","author":"Nennstiel","year":"2022","journal-title":"Med. Genet."},{"key":"ref_795","first-page":"3","article-title":"Legal aspects of newborn screening","volume":"34","author":"Rosenau","year":"2022","journal-title":"Med. Genet."},{"key":"ref_796","first-page":"21","article-title":"Second-tier strategies in newborn screening\u2014Potential and limitations","volume":"34","author":"Gramer","year":"2022","journal-title":"Med. Genet."},{"key":"ref_797","first-page":"306","article-title":"Target diseases for neonatal screening in Germany. Challenges for treatment and long-term care","volume":"119","author":"Spiekerkoetter","year":"2022","journal-title":"Dtsch. Arztebl. Int."},{"key":"ref_798","first-page":"29","article-title":"Twenty years of newborn screening for congenital adrenal hyperplasia and congenital primary hypothyroidism\u2014Experiences from the DGKED\/AQUAPE study group for quality improvement in Germany","volume":"34","author":"Hammersen","year":"2022","journal-title":"Med. Genet."},{"key":"ref_799","first-page":"13","article-title":"From newborn screening to genomic medicine: Challenges and suggestions on how to incorporate genomic newborn screening in public health programs","volume":"34","author":"Dikow","year":"2022","journal-title":"Med. Genet."},{"key":"ref_800","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1186\/s13023-021-01783-8","article-title":"Newborn screening for spinal muscular atrophy in Germany: Clinical results after 2 years","volume":"16","author":"Vill","year":"2021","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_801","doi-asserted-by":"crossref","first-page":"55","DOI":"10.3233\/JND-221577","article-title":"Newborn screening SMA\u2014From pilot project to nationwide screening in Germany","volume":"10","author":"Blaschek","year":"2023","journal-title":"J. Neuromuscul. Dis."},{"key":"ref_802","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1111\/dmcn.15152","article-title":"Newborn infant screening for spinal muscular atrophy: Chances and challenges","volume":"64","year":"2022","journal-title":"Dev. Med. Child Neurol."},{"key":"ref_803","doi-asserted-by":"crossref","first-page":"109","DOI":"10.3233\/JND-200475","article-title":"Infants diagnosed with spinal muscular atrophy and 4 SMN2 copies through newborn screening\u2014Opportunity or burden?","volume":"7","author":"Vill","year":"2020","journal-title":"J. Neuromuscul. Dis."},{"key":"ref_804","doi-asserted-by":"crossref","unstructured":"K\u00f6lbel, H., Modler, L., Blaschek, A., Schara-Schmidt, U., Vill, K., Schwartz, O., and M\u00fcller-Felber, W. (2022). Parental burden and quality of life in 5q-SMA diagnosed by newborn screening. Children, 9.","DOI":"10.3390\/children9121829"},{"key":"ref_805","doi-asserted-by":"crossref","unstructured":"Lobitz, S., Kunz, J.B., Cario, H., Hakimeh, D., Jarisch, A., Kulozik, A.E., Oevermann, L., and Grosse, R. (2021). Introduction of universal newborn screening for sickle cell disease in Germany\u2014A brief narrative review. Int. J. Neonat. Screen., 7.","DOI":"10.3390\/ijns7010007"},{"key":"ref_806","doi-asserted-by":"crossref","first-page":"9762","DOI":"10.1038\/s41598-022-13751-8","article-title":"Screening and diagnosis of hemoglobinopathies in Germany: Current state and future perspectives","volume":"12","author":"Halimeh","year":"2022","journal-title":"Sci. Rep."},{"key":"ref_807","doi-asserted-by":"crossref","unstructured":"Alashkar, F., Aramayo-Singelmann, C., B\u00f6ll, J., Hoferer, A., Jarisch, A., Kamal, H., Oevermann, L., Schwarz, M., and Cario, H. (2022). Transition in sickle cell disease (SCD): A German consensus recommendation. J. Pers. Med., 12.","DOI":"10.3390\/jpm12071156"},{"key":"ref_808","doi-asserted-by":"crossref","first-page":"1859","DOI":"10.1007\/s00277-022-04811-0","article-title":"Simultaneous newborn screening for sickle cell disease, biotinidase deficiency, and hereditary tyrosinemia type 1 with an optimized tandem mass spectrometry protocol","volume":"101","author":"Lobitz","year":"2022","journal-title":"Ann. Hematol."},{"key":"ref_809","doi-asserted-by":"crossref","unstructured":"Tesorero, R., Janda, J., H\u00f6rster, F., Feyh, P., M\u00fctze, U., Hauke, J., Schwarz, K., Kunz, J.B., Hoffmann, G.F., and Okun, J.G. (2023). A high-throughput newborn screening approach for SCID, SMA, and SCD combining multiplex qPCR and tandem mass spectrometry. PLoS ONE, 18.","DOI":"10.1371\/journal.pone.0283024"},{"key":"ref_810","doi-asserted-by":"crossref","first-page":"965","DOI":"10.1007\/s10875-023-01450-6","article-title":"Prospective newborn screening for SCID in Germany: A first analysis by the Pediatric Immunology Working Group (API)","volume":"43","author":"Speckmann","year":"2023","journal-title":"J. Clin. Immunol."},{"key":"ref_811","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1016\/j.jcf.2021.10.007","article-title":"Final results of the southwest German pilot study on cystic fibrosis newborn screening\u2014Evaluation of an IRT\/PAP protocol with IRT-dependent safety net","volume":"21","author":"Sommerburg","year":"2022","journal-title":"J. Cyst. Fibros."},{"key":"ref_812","doi-asserted-by":"crossref","unstructured":"Maier, P., Jeyaweerasinkam, S., Eberhard, J., Soueidan, L., H\u00e4mmerling, S., Kohlm\u00fcller, D., Feyh, P., Gramer, G., Garbade, S.F., and Hoffmann, G.F. (2024). Influence of season, storage temperature and time of sample collection in pancreatitis-associated protein-based algorithms for newborn screening for cystic fibrosis. Int. J. Neonatal Screen., 10.","DOI":"10.3390\/ijns10010005"},{"key":"ref_813","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1055\/a-1700-5105","article-title":"The first 4 years\u2014Outcome of children identified by newborn screening for CF in Germany","volume":"234","author":"Kontsendorn","year":"2022","journal-title":"Klin. Padiatr."},{"key":"ref_814","doi-asserted-by":"crossref","first-page":"844","DOI":"10.1002\/ppul.26263","article-title":"German newborn screening for Cystic fibrosis: Parental perspectives and suggestions for improvements","volume":"58","author":"Gapp","year":"2023","journal-title":"Pediatr. Pulmonol."},{"key":"ref_815","doi-asserted-by":"crossref","first-page":"e20200444","DOI":"10.1542\/peds.2020-0444","article-title":"Long-term outcomes of individuals with metabolic diseases identified through newborn screening","volume":"146","author":"Garbade","year":"2020","journal-title":"Pediatrics"},{"key":"ref_816","first-page":"101","article-title":"Screening Laboratories in Germany. Neonatal screening for congenital metabolic and endocrine disorders\u2014Results from Germany for the years 2006\u20132018","volume":"118","author":"Blankenstein","year":"2021","journal-title":"Dtsch. Arztebl. Int."},{"key":"ref_817","first-page":"S91","article-title":"Newborn screening for metachromatic leukodystrophy in Northern Germany-a prospective study","volume":"135","author":"Oliva","year":"2022","journal-title":"Molec. Genet. Metab."},{"key":"ref_818","doi-asserted-by":"crossref","unstructured":"Hohenfellner, K., Elenberg, E., Ariceta, G., Nesterova, G., Soliman, N.A., and Topaloglu, R. (2022). Newborn screening: Review of its impact for cystinosis. Cells, 11.","DOI":"10.3390\/cells11071109"},{"key":"ref_819","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1016\/j.jpeds.2019.07.052","article-title":"Newborn screening for vitamin B12 deficiency in Germany\u2014Strategies, results, and public health implications","volume":"216","author":"Gramer","year":"2020","journal-title":"J. Pediatr."},{"key":"ref_820","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1016\/j.jpeds.2021.02.009","article-title":"Health outcomes of infants with vitamin B12 deficiency identified by newborn screening and early treated","volume":"235","author":"Walter","year":"2021","journal-title":"J. Pediatr."},{"key":"ref_821","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1159\/000508838","article-title":"Diagnostic challenges using a 2-tier strategy for methylmalonic acidurias: Data from 1.2 million dried blood spots","volume":"76","author":"Weiss","year":"2020","journal-title":"Ann. Nutr. Metab."},{"key":"ref_822","doi-asserted-by":"crossref","first-page":"043","DOI":"10.1002\/jimd.12671","article-title":"Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples","volume":"46","author":"Maier","year":"2023","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_823","doi-asserted-by":"crossref","first-page":"857","DOI":"10.1002\/jimd.12364","article-title":"Newborn screening and disease variants predict neurological outcome in isovaleric aciduria","volume":"44","author":"Henze","year":"2021","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_824","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1002\/jmd2.12345","article-title":"Neonatal screening for isovaleric aciduria: Reducing the increasingly high false-positive rate in Germany","volume":"64","author":"Murko","year":"2022","journal-title":"JIMD Rep."},{"key":"ref_825","doi-asserted-by":"crossref","first-page":"250","DOI":"10.1002\/jmd2.12285","article-title":"Opportunities and challenges in machine learning-based newborn screening\u2014A systematic literature review","volume":"63","author":"Zaunseder","year":"2022","journal-title":"JIMD Rep."},{"key":"ref_826","doi-asserted-by":"crossref","unstructured":"Zaunseder, E., M\u00fctze, U., Garbade, S.F., Haupt, S., Feyh, P., Hoffmann, G.F., Heuveline, V., and K\u00f6lker, S. (2023). Machine learning methods improve specificity in newborn screening for isovaleric aciduria. Metabolites, 13.","DOI":"10.3390\/metabo13020304"},{"key":"ref_827","first-page":"99","article-title":"Newborn screening: Still room for improvement","volume":"118","author":"Zimmer","year":"2021","journal-title":"Dtsch. Arztebl. Int."},{"key":"ref_828","doi-asserted-by":"crossref","unstructured":"Odenwald, B., Brockow, I., Hanauer, M., L\u00fcders, A., and Nennstiel, U. (2023). Is our newborn screening working well? A literature review of quality requirements for newborn blood spot screening (NBS) infrastructure and procedures. Int. J. Neonatal Screen., 9.","DOI":"10.3390\/ijns9030035"},{"key":"ref_829","doi-asserted-by":"crossref","first-page":"S341","DOI":"10.1007\/s10545-010-9181-8","article-title":"Expanded newborn screening in Greece: 30 months of experience","volume":"33","author":"Loukas","year":"2010","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_830","doi-asserted-by":"crossref","unstructured":"Loukou, I., Moustaki, M., and Douros, K. (2024). The psychological impact on parents of children who receive an inconclusive diagnosis for cystic fibrosis following newborn screening: A systematic mini-review. Children, 11.","DOI":"10.3390\/children11010093"},{"key":"ref_831","unstructured":"(2023, April 28). Inside Precision Medicine. Genomics Data Players Unite to Power Greek Newborn Screening Project. Available online: https:\/\/www.insideprecisionmedicine.com\/topics\/molecular-dx-topic\/genetic-disease-testing\/genomics-data-players-unite-to-power-greek-newborn-screening-project\/."},{"key":"ref_832","doi-asserted-by":"crossref","unstructured":"K\u00f3sa, M., Galla, Z., L\u00e9n\u00e1rt, I., Bar\u00e1th, \u00c1., Grecs\u00f3, N., R\u00e1cz, G., Bereczki, C., and Monostori, P. (2022). Vitamin B12 (Cobalamin): Its fate from ingestion to metabolism with particular emphasis on diagnostic approaches of acquired neonatal\/infantile deficiency detected by newborn screening. Metabolites, 12.","DOI":"10.3390\/metabo12111104"},{"key":"ref_833","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1016\/j.clinbiochem.2022.09.010","article-title":"Identification of potential interferents of methylmalonic acid: A previously unrecognized pitfall in clinical diagnostics and newborn screening","volume":"111","author":"Monostori","year":"2023","journal-title":"Clin. Biochem."},{"key":"ref_834","doi-asserted-by":"crossref","unstructured":"Grecs\u00f3, N., Z\u00e1dori, A., Bar\u00e1th, \u00c1., Galla, Z., R\u00e1cz, G., Bereczki, C., and Monostori, P. (2021). Comparison of different preparation techniques of dried blood spot quality controls in newborn screening for congenital adrenal hyperplasia. PLoS ONE, 16.","DOI":"10.1371\/journal.pone.0252091"},{"key":"ref_835","first-page":"211","article-title":"The reform of the newborn screening policy: Spinal muscular atrophy","volume":"36","author":"Bartos","year":"2021","journal-title":"Issues Law Med."},{"key":"ref_836","unstructured":"Marchadesch, L. (2023). Newborn Screening for Cystic Fibrosis in Iceland: A Pilot Study. [Master\u2019s Thesis, University of Iceland School of Health Sciences]."},{"key":"ref_837","doi-asserted-by":"crossref","first-page":"1144","DOI":"10.1038\/s41390-020-1033-0","article-title":"Does metabolomic profile differ with regard to birth weight?","volume":"89","author":"Vidarsdottir","year":"2021","journal-title":"Pediatr. Res."},{"key":"ref_838","doi-asserted-by":"crossref","first-page":"2110","DOI":"10.1111\/apa.15822","article-title":"Mode of delivery was associated with transient changes in the metabolomic profile of neonates","volume":"110","author":"Vidarsdottir","year":"2021","journal-title":"Acta Paediatr."},{"key":"ref_839","unstructured":"National Newborn Bloodspot Screening Laboratory, Children\u2019s Health Ireland at Temple Street (2022). A Practical Guide to Newborn Bloodspot Screening in Ireland, National Newborn Bloodspot Screening Laboratory, Children\u2019s Health Ireland at Temple Street. [9th ed.]."},{"key":"ref_840","unstructured":"Health Information and Quality Authority (2021). Review of Processes in Use to Inform the Expansion of Newborn Bloodspot Screening Programmes, Health Information and Quality Authority."},{"key":"ref_841","doi-asserted-by":"crossref","first-page":"639","DOI":"10.1002\/jimd.12337","article-title":"Maple syrup urine disease: Clinical outcomes, metabolic control, and genotypes in a screened population after four decades of newborn bloodspot screening in the Republic of Ireland","volume":"44","author":"Crushell","year":"2021","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_842","unstructured":"Mulholland, P. (2023, April 29). The NSAC and the Work of Expanding the Newborn Screening Programme. The Medical Independent. Available online: https:\/\/www.medicalindependent.ie\/in-the-news\/news-features\/the-nsac-and-the-work-of-expanding-the-newborn-screening-programme\/."},{"key":"ref_843","doi-asserted-by":"crossref","first-page":"1669","DOI":"10.1038\/s41431-020-0661-5","article-title":"National newborn screening for cystic fibrosis in the Republic of Ireland: Genetic data from the first 6.5 years","volume":"28","author":"Sasaki","year":"2020","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_844","doi-asserted-by":"crossref","first-page":"1305","DOI":"10.1038\/s41431-020-0690-0","article-title":"Setting a new standard in cystic fibrosis newborn screening illustrates controversial issues as new data emerge","volume":"28","author":"Farrell","year":"2020","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_845","doi-asserted-by":"crossref","first-page":"2323","DOI":"10.1002\/ppul.24876","article-title":"Neonatal screening programme for CF: Results from the Irish Comparative Outcomes Study (ICOS)","volume":"55","author":"Fitzgerald","year":"2020","journal-title":"Pediatr. Pulmonol."},{"key":"ref_846","doi-asserted-by":"crossref","first-page":"436","DOI":"10.1016\/j.jcf.2015.11.014","article-title":"Newborn bloodspot screening for cystic fibrosis: What do antenatal and postnatal women know about cystic fibrosis?","volume":"15","author":"Fitzgerald","year":"2016","journal-title":"J. Cyst. Fibros."},{"key":"ref_847","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1016\/j.midw.2016.11.007","article-title":"An evaluation of pregnant women\u2019s knowledge and attitudes about newborn bloodspot screening","volume":"45","author":"Fitzgerald","year":"2017","journal-title":"Midwifery"},{"key":"ref_848","doi-asserted-by":"crossref","first-page":"921","DOI":"10.1007\/s11845-018-1949-0","article-title":"Parental awareness of newborn bloodspot screening in Ireland","volume":"188","author":"Fitzpatrick","year":"2019","journal-title":"Ir. J. Med. Sci."},{"key":"ref_849","doi-asserted-by":"crossref","first-page":"1950","DOI":"10.1007\/s10875-021-01106-3","article-title":"Severe combined immunodeficiency (SCID)-the Irish experience","volume":"41","author":"Burns","year":"2021","journal-title":"J. Clin. Immunol."},{"key":"ref_850","doi-asserted-by":"crossref","first-page":"1123","DOI":"10.1515\/jpem-2021-0123","article-title":"The presentation of congenital adrenal hyperplasia in an unscreened population","volume":"34","author":"Conlon","year":"2021","journal-title":"J. Pediatr. Endocrinol. Metab."},{"key":"ref_851","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1186\/s13023-022-02550-z","article-title":"The importance of early diagnosis and views on newborn screening in metachromatic leukodystrophy: Results of a caregiver survey in the UK and Republic of Ireland","volume":"17","author":"Morton","year":"2022","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_852","first-page":"e202101007","article-title":"La organizaci\u00f3n del cribado neonatal en Italia: Comparaci\u00f3n con Europa y el resto del mundo [The newborn screening program in Italy: Comparison with Europe and other countries]","volume":"95","year":"2021","journal-title":"Rev. Esp. Salud Publica"},{"key":"ref_853","doi-asserted-by":"crossref","unstructured":"Ruoppolo, M., Malvagia, S., Boenzi, S., Carducci, C., Dionisi-Vici, C., Teofoli, F., Burlina, A., Angeloni, A., Aronica, T., and Bordugo, A. (2022). Expanded newborn screening in Italy using tandem mass spectrometry: Two years of national experience. Int. J. Neonatal Screen., 8.","DOI":"10.3390\/ijns8030047"},{"key":"ref_854","first-page":"1","article-title":"Newborn screening in Italy: A unique program of public health in Europe. Editorial","volume":"59","author":"Taruscio","year":"2023","journal-title":"Ann. Ist. Super. Sanita"},{"key":"ref_855","doi-asserted-by":"crossref","first-page":"100689","DOI":"10.1016\/j.ymgmr.2020.100689","article-title":"High frequency of biotinidase deficiency in Italian population identified by newborn screening","volume":"25","author":"Funghini","year":"2020","journal-title":"Mol. Genet. Metab. Rep."},{"key":"ref_856","doi-asserted-by":"crossref","first-page":"661416","DOI":"10.3389\/fped.2021.661416","article-title":"Newborn Screening for biotinidase deficiency. The experience of a regional center in Italy","volume":"9","author":"Maguolo","year":"2021","journal-title":"Front. Pediatrics"},{"key":"ref_857","doi-asserted-by":"crossref","unstructured":"Semeraro, D., Verrocchio, S., Di Dalmazi, G., Rossi, C., Pieragostino, D., Cicalini, I., Ferrante, R., Di Michele, S., Stuppia, L., and Rizzo, C. (2022). High incidence of partial biotinidase deficiency in the first 3 years of a regional newborn screening program in Italy. Int. J. Environ. Res. Public Health, 19.","DOI":"10.3390\/ijerph19138141"},{"key":"ref_858","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1186\/s13052-020-00948-8","article-title":"Cystic fibrosis in Tuscany: Evolution of newborn screening strategies over time to the present","volume":"47","author":"Botti","year":"2021","journal-title":"Ital. J. Pediatr."},{"key":"ref_859","doi-asserted-by":"crossref","first-page":"828","DOI":"10.1016\/j.jcf.2021.03.015","article-title":"A survey of the prevalence, management and outcome of infants with an inconclusive diagnosis following newborn bloodspot screening for cystic fibrosis (CRMS\/CFSPID) in six Italian centres","volume":"20","author":"Terlizzi","year":"2021","journal-title":"J. Cyst. Fibros."},{"key":"ref_860","doi-asserted-by":"crossref","unstructured":"Bianchimani, C., Dolce, D., Centrone, C., Campana, S., Ravenni, N., Orioli, T., Camera, E., Mergni, G., Fevola, C., and Bonomi, P. (2022). Impact of pancreatitis-associated protein on newborn screening outcomes and detection of CFTR-related metabolic syndrome (CRMS)\/cystic fibrosis screen positive, inconclusive diagnosis (CFSPID): A monocentric prospective pilot experience. Int. J. Neonatal Screen., 8.","DOI":"10.3390\/ijns8030046"},{"key":"ref_861","doi-asserted-by":"crossref","unstructured":"Gragnaniello, V., Burlina, A.P., Polo, G., Giuliani, A., Salviati, L., Duro, G., Cazzorla, C., Rubert, L., Maines, E., and Germain, D.P. (2021). Newborn Screening for Fabry disease in Northeastern Italy: Results of five years of experience. Biomolecules, 11.","DOI":"10.3390\/biom11070951"},{"key":"ref_862","doi-asserted-by":"crossref","first-page":"100929","DOI":"10.1016\/j.ymgmr.2022.100929","article-title":"Newborn screening for Pompe disease in Italy: Long-term results and future challenges","volume":"33","author":"Gragnaniello","year":"2022","journal-title":"Mol. Genet. Metab. Rep."},{"key":"ref_863","doi-asserted-by":"crossref","first-page":"2063","DOI":"10.1515\/cclm-2020-0064","article-title":"The combined use of enzyme activity and metabolite assays as a strategy for newborn screening of mucopolysaccharidosis type I","volume":"58","author":"Polo","year":"2020","journal-title":"Clin. Chem. Lab. Med."},{"key":"ref_864","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1080\/10408363.2021.2021846","article-title":"Newborn screening of mucopolysaccharidosis type I","volume":"59","author":"Burlina","year":"2022","journal-title":"Crit. Rev. Clin. Lab. Sci."},{"key":"ref_865","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1186\/s13052-018-0552-3","article-title":"Newborn screening in mucopolysaccharidoses","volume":"44","author":"Donati","year":"2018","journal-title":"Ital. J. Pediatr."},{"key":"ref_866","doi-asserted-by":"crossref","unstructured":"Succoio, M., Sacchettini, R., Rossi, A., Parenti, G., and Ruoppolo, M. (2022). Galactosemia: Biochemistry, molecular genetics, newborn screening, and treatment. Biomolecules, 12.","DOI":"10.3390\/biom12070968"},{"key":"ref_867","doi-asserted-by":"crossref","first-page":"1677","DOI":"10.1007\/s10072-020-04307-7","article-title":"Is it the right time for an infant screening for Duchenne muscular dystrophy?","volume":"41","author":"Vita","year":"2020","journal-title":"Neurol. Sci."},{"key":"ref_868","doi-asserted-by":"crossref","unstructured":"Malvagia, S., Forni, G., Ombrone, D., and la Marca, G. (2020). Development of strategies to decrease false positive results in newborn screening. Int. J. Neonatal Screen., 6.","DOI":"10.3390\/ijns6040084"},{"key":"ref_869","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1159\/000524170","article-title":"Twenty years of neonatal screening for congenital adrenal hyperplasia in North-Eastern Italy: Role of liquid chromatography-tandem mass spectrometry as a second-tier test","volume":"95","author":"Cavarzere","year":"2022","journal-title":"Horm. Res. Paediatr."},{"key":"ref_870","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1186\/s13052-021-01053-0","article-title":"Neonatal screening for congenital hypothyroidism in an Italian Centre: A 5-years real-life retrospective study","volume":"4","author":"Maggio","year":"2021","journal-title":"Ital. J. Pediatr."},{"key":"ref_871","doi-asserted-by":"crossref","first-page":"e338","DOI":"10.1210\/clinem\/dgaa789","article-title":"Newborn screening for congenital hypothyroidism: The benefit of using differential tsh cutoffs in a 2-screen program","volume":"106","author":"Caiulo","year":"2021","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_872","doi-asserted-by":"crossref","first-page":"5765","DOI":"10.1210\/jc.2019-00900","article-title":"Neonatal screening for congenital hypothyroidism: What can we learn from discordant twins?","volume":"104","author":"Medda","year":"2019","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_873","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1089\/thy.2022.0495","article-title":"Neonatal screening for congenital hypothyroidism in preterm infants: Is a targeted strategy required?","volume":"33","author":"Tuli","year":"2023","journal-title":"Thyroid"},{"key":"ref_874","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1186\/s13052-022-01328-0","article-title":"Congenital hypothyroidism after newborn screening program reorganization in the Apulia region","volume":"48","author":"Simonetti","year":"2022","journal-title":"Ital. J. Pediatr."},{"key":"ref_875","doi-asserted-by":"crossref","first-page":"2549","DOI":"10.1182\/blood-2022-167576","article-title":"Newborn Screening for sickle cell disease in Italy: Report of 7 years of a low cost and reproducible program in an area of immigration of high risk population","volume":"140","author":"Venturelli","year":"2022","journal-title":"Blood"},{"key":"ref_876","doi-asserted-by":"crossref","first-page":"e27657","DOI":"10.1002\/pbc.27657","article-title":"Results of a multicenter universal newborn screening program for sickle cell disease in Italy: A call to action","volume":"66","author":"Colombatti","year":"2019","journal-title":"Pediatr. Blood Cancer"},{"key":"ref_877","doi-asserted-by":"crossref","first-page":"1072256","DOI":"10.3389\/fneur.2022.1072256","article-title":"Newborn screening for X-linked adrenoleukodystrophy in Italy: Diagnostic algorithm and disease monitoring","volume":"13","author":"Bonaventura","year":"2023","journal-title":"Front. Neurol."},{"key":"ref_878","doi-asserted-by":"crossref","first-page":"2821","DOI":"10.1007\/s00431-022-04470-3","article-title":"Neurological assessment of newborns with spinal muscular atrophy identified through neonatal screening","volume":"181","author":"Pane","year":"2022","journal-title":"Eur. J. Pediatr."},{"key":"ref_879","doi-asserted-by":"crossref","first-page":"e401","DOI":"10.1515\/cclm-2021-0307","article-title":"The successful inclusion of ADA SCID in Tuscany expanded newborn screening program","volume":"59","author":"Malvagia","year":"2021","journal-title":"Clin. Chem. Lab. Med."},{"key":"ref_880","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1016\/j.jaci.2014.01.040","article-title":"Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots","volume":"134","author":"Canessa","year":"2014","journal-title":"J. Allergy Clin. Immunol."},{"key":"ref_881","doi-asserted-by":"crossref","unstructured":"Messina, M., Arena, A., Fiumara, A., Iacobacci, R., Meli, C., and Raudino, F. (2020). Neonatal screening on tandem mass spectrometry as a powerful tool for the reassessment of the prevalence of underestimated diseases in newborns and their family members: A focus on short chain acyl-coa dehydrogenase deficiency. Int. J. Neonatal Screen., 6.","DOI":"10.3390\/ijns6030058"},{"key":"ref_882","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1016\/j.ymgme.2022.02.008","article-title":"The diagnostic challenge of mild citrulline elevation at newborn screening","volume":"135","author":"Carducci","year":"2022","journal-title":"Mol. Genet. Metab."},{"key":"ref_883","doi-asserted-by":"crossref","unstructured":"Pellegrinelli, L., Galli, C., Primache, V., Alde\u2019, M., Fagnani, E., Di Berardino, F., Zanetti, D., Pariani, E., Ambrosetti, U., and Binda, S. (2019). Diagnosis of congenital CMV infection via DBS samples testing and neonatal hearing screening: An observational study in Italy. BMC Infect. Dis., 19.","DOI":"10.1186\/s12879-019-4296-5"},{"key":"ref_884","doi-asserted-by":"crossref","unstructured":"Pellegrinelli, L., Alberti, L., Pariani, E., Barbi, M., and Binda, S. (2020). Diagnosing congenital cytomegalovirus infection: Don\u2019t get rid of dried blood spots. BMC Infect. Dis., 20.","DOI":"10.1186\/s12879-020-4941-z"},{"key":"ref_885","doi-asserted-by":"crossref","unstructured":"Gragnaniello, V., Cazzorla, C., Gueraldi, D., Puma, A., Loro, C., Porc\u00f9, E., Stornaiuolo, M., Miglioranza, P., Salviati, L., and Burlina, A.P. (2024). Light and shadows in newborn screening for lysosomal storage disorders: Eight years of experience in northeast Italy. Int. J. Neonatal Screen., 10.","DOI":"10.20944\/preprints202311.0727.v1"},{"key":"ref_886","first-page":"14","article-title":"10 years of neonatal screening in the Republican of Kazakhstan: Results and prospects","volume":"16","author":"Svyatova","year":"2017","journal-title":"Med. Genet."},{"key":"ref_887","doi-asserted-by":"crossref","first-page":"1278750","DOI":"10.3389\/fgene.2023.1278750","article-title":"Selective screening for inborn errors of metabolism using tandem mass spectrometry in west Kazakhstan children: Study protocol","volume":"14","author":"Zharmakhanova","year":"2024","journal-title":"Front. Genet."},{"key":"ref_888","doi-asserted-by":"crossref","unstructured":"Auzenbaha, M., Aleksejeva, E., Taurina, G., Kornejeva, L., Kesmpa, I., Svabe, V., and Gailite, L. (2022). Clinical and genetic characterisation of cystic fibrosis patients in Latvia: A twenty-five-year experience. Diagnostics, 12.","DOI":"10.3390\/diagnostics12112893"},{"key":"ref_889","doi-asserted-by":"crossref","unstructured":"Gailite, L., Sterna, O., Konika, M., Isakovs, A., Isakova, J., Micule, I., Setlere, S., Diriks, M., and Auzenbaha, M. (2022). New-born screening for spinal muscular atrophy: Results of a Latvian pilot study. Int. J. Neonatal Screen., 8.","DOI":"10.3390\/ijns8010015"},{"key":"ref_890","unstructured":"Visuotinis Naujagimiu Tikrinimas (2023, April 30). Newborn Screening. Available online: http:\/\/www.patikrinkmane.lt\/newborn-screening\/."},{"key":"ref_891","first-page":"P649","article-title":"Neonatal thyroid stimulating hormone as indicator of iodine status in Lithuania","volume":"81","author":"Zabuliene","year":"2022","journal-title":"Endocr. Abstr."},{"key":"ref_892","doi-asserted-by":"crossref","unstructured":"Navardauskait\u0117, R., Banevi\u010di\u016bt\u0117, K., Songailien\u0117, J., Grigalionien\u0117, K., \u010cere\u0161kevi\u010dius, D., \u0160ukys, M., Mockevicien\u0117, G., Smirnova, M., Utkus, A., and Verkauskien\u0117, R. (2021). Impact of newborn screening on clinical presentation of congenital adrenal hyperplasia. Medicina, 57.","DOI":"10.3390\/medicina57101035"},{"key":"ref_893","unstructured":"LNS Luxembourg (2024, January 02). Day of the Unborn Child, March 25: \u201cPreventive Health Care from the Very First Hour\u201d. Available online: https:\/\/lns.lu\/en\/day-of-the-unborn-child-march-25-preventive-health-care-from-the-very-first-hour\/."},{"key":"ref_894","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1186\/s13023-016-0483-2","article-title":"Phenylketonuria screening in the Republic of Macedonia","volume":"11","author":"Kocova","year":"2016","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_895","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1016\/j.ymgmr.2017.07.005","article-title":"Comments on: Kocova, M.; Anastasovska, V. Comments on \u2018Newborn screening in southeastern Europe\u2019 published in Mol. Genet. Metab. 2014, 113, 42\u201345 by Groselj, U.; ZerjavTansek, M.; Smon, A.; Angelkova, N.; Anton, D.; Baric, I.; Djordjevic, M.; et al. in Mol. Genet. Metab. Rep. 2015, 5, 110","volume":"13","author":"Gucev","year":"2017","journal-title":"Mol. Genet. Metab. Rep."},{"key":"ref_896","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1515\/jpem-2016-0178","article-title":"Ethnicity and incidence of congenital hypothyroidism in the capital of Macedonia","volume":"30","author":"Anastasovska","year":"2017","journal-title":"J. Pediatr. Endocrinol. Metab."},{"key":"ref_897","doi-asserted-by":"crossref","unstructured":"Anastasovska, V., Sukarova-Angelovska, E., Pesevska, M., Taseva, E., and Kocova, M. (2017). Regional variation in the incidence of congenital hypothyroidism in Macedonia. Int. J. Neonatal Screen., 3.","DOI":"10.3390\/ijns3030022"},{"key":"ref_898","doi-asserted-by":"crossref","first-page":"227","DOI":"10.24953\/turkjped.2022.594","article-title":"Prevalence of congenital hypothyroidism in North Macedonia: Data from a newborn screening program conducted for twenty years","volume":"65","author":"Anastasovska","year":"2023","journal-title":"Turk. J. Pediatr."},{"key":"ref_899","doi-asserted-by":"crossref","first-page":"41","DOI":"10.2478\/bjmg-2021-0015","article-title":"Two years of newborn screening for cystic fibrosis in North Macedonia: First experience","volume":"24","author":"Fustik","year":"2021","journal-title":"Balkan J. Med. Genet."},{"key":"ref_900","unstructured":"Malta Independent (2023, May 26). New Form of Screening for Medical Condition in Newborns. Available online: https:\/\/www.independent.com.mt\/articles\/2017-07-13\/local-news\/New-form-of-screening-for-medical-condition-in-newborns-6736176539."},{"key":"ref_901","unstructured":"TVM News (2023, May 26). Funds from Norway to Be Used in Malta to Detect Rare Disease Found in Newborns. Available online: https:\/\/tvmnews.mt\/en\/news\/funds-from-norway-to-be-used-in-malta-to-detect-rare-disease-found-in-newborns\/."},{"key":"ref_902","doi-asserted-by":"crossref","first-page":"635353","DOI":"10.3389\/fped.2021.635353","article-title":"Expanded neonatal bloodspot screening programmes: An evaluation framework to discuss new conditions with stakeholders","volume":"9","author":"Jansen","year":"2021","journal-title":"Front. Pediatr."},{"key":"ref_903","first-page":"19","article-title":"The moral life of professionals in newborn screening in the Netherlands: A qualitative study","volume":"10","author":"Oerlemans","year":"2017","journal-title":"Public Health Ethics"},{"key":"ref_904","doi-asserted-by":"crossref","first-page":"706394","DOI":"10.3389\/fped.2021.706394","article-title":"Expanding neonatal bloodspot screening: A multi-stakeholder perspective","volume":"9","author":"Kater","year":"2021","journal-title":"Front. Pediatr."},{"key":"ref_905","doi-asserted-by":"crossref","unstructured":"van der Pal, S.M., Wins, S., Klapwijk, J.E., van Dijk, T., Kater-Kuipers, A., van der Ploeg, C.P.B., Jans, S.M.P.J., Kemp, S., Verschoof-Puite, R.K., and van den Bosch, L.J.M. (2022). Parents\u2019 views on accepting, declining, and expanding newborn bloodspot screening. PLoS ONE, 17.","DOI":"10.1371\/journal.pone.0272585"},{"key":"ref_906","doi-asserted-by":"crossref","unstructured":"Jansen, M.E., van den Bosch, L.J.M., Hendriks, M.J., Scheffer, M.M.J., Heijnen, M.L., Douglas, C.M.W., and van El, C.G. (2019). Parental perspectives on retention and secondary use of neonatal dried bloodspots: A Dutch mixed methods study. BMC Pediatr., 19.","DOI":"10.1186\/s12887-019-1590-8"},{"key":"ref_907","unstructured":"Health Council of the Netherlands (2024, January 20). Evaluating Newborn Blood Spot Screening: A Framework and Initial Assessment. Available online: https:\/\/www.healthcouncil.nl\/documents\/advisory-reports\/2021\/12\/14\/evaluating-newborn-blood-spot-screening-a-framework-and-initial-assessment."},{"key":"ref_908","unstructured":"National Government of the Netherlands (Rijksoverheid) (2024, January 20). Toekomstverkenning Neonatale Hielprikscreening (Exploring the Future of Neonatal Heel Prick Screening\u2014In Dutch). Available online: https:\/\/www.rijksoverheid.nl\/documenten\/rapporten\/2023\/03\/31\/toekomstverkenning-neonatale-hielprikscreening."},{"key":"ref_909","doi-asserted-by":"crossref","unstructured":"Veldman, A., Kiewiet, M.B.G., Westra, D., Bosch, A.M., Brands, M.M.G., de Coo, R.I.F.M., Derks, T.G.J., Fuchs, S.A., van den Hout, J.M.P., and Huidekoper, H.H. (2023). A Delphi survey study to formulate statements on the treatability of inherited metabolic disorders to decide on eligibility for newborn screening. Int. J. Neonatal Screen., 9.","DOI":"10.3390\/ijns9040056"},{"key":"ref_910","doi-asserted-by":"crossref","unstructured":"Blom, M., Bredius, R.G.M., Weijman, G., Dekkers, E.H.B.M., Kemper, E.A., van den Akker-van Marle, M.E., van der Ploeg, C.P.B., van der Burg, M., and Schielen, P.C.J.I. (2018). Introducing newborn screening for severe combined immunodeficiency (SCID) in the Dutch neonatal screening program. Int. J. Neonatal Screen., 4.","DOI":"10.3390\/ijns4040040"},{"key":"ref_911","doi-asserted-by":"crossref","first-page":"1183","DOI":"10.1007\/s00431-015-2518-4","article-title":"Overview of 15-year severe combined immunodeficiency in the Netherlands: Towards newborn blood spot screening","volume":"174","author":"Bredius","year":"2015","journal-title":"Eur. J. Pediatr."},{"key":"ref_912","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1016\/j.clim.2017.05.007","article-title":"An evaluation of the TREC assay with regard to the integration of SCID screening into the Dutch newborn screening program","volume":"180","author":"Blom","year":"2017","journal-title":"Clin. Immunol."},{"key":"ref_913","doi-asserted-by":"crossref","first-page":"721","DOI":"10.1007\/s00431-019-03346-3","article-title":"Cost-effectiveness of newborn screening for severe combined immunodeficiency","volume":"178","author":"Blom","year":"2019","journal-title":"Eur. J. Pediatr."},{"key":"ref_914","doi-asserted-by":"crossref","first-page":"2438","DOI":"10.3389\/fimmu.2019.02438","article-title":"Dilemma of reporting incidental findings in newborn screening programs for SCID: Parents\u2019 perspective on ataxia telangiectasia","volume":"10","author":"Blom","year":"2019","journal-title":"Front. Immunol."},{"key":"ref_915","doi-asserted-by":"crossref","unstructured":"van den Akker-van Marle, M.E., Blom, M., van der Burg, M., Bredius, R.G.M., and Van der Ploeg, C.P.B. (2021). Economic evaluation of different screening strategies for severe combined immunodeficiency based on real-life data. Int. J. Neonatal Screen., 7.","DOI":"10.3390\/ijns7030060"},{"key":"ref_916","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1007\/s10875-020-00886-4","article-title":"Parents\u2019 perspectives and societal acceptance of implementation of newborn screening for SCID in the Netherlands","volume":"41","author":"Blom","year":"2021","journal-title":"J. Clin. Immunol."},{"key":"ref_917","unstructured":"Stroek, K. (2021). Parents\u2019 Perspectives and Societal Acceptance of Implementation of Newborn Screening for SCID in The Netherlands. [Ph.D. Thesis, University van Amsterdam Faculty of Medicine]."},{"key":"ref_918","doi-asserted-by":"crossref","first-page":"1155","DOI":"10.1038\/s41431-022-01055-4","article-title":"The case for screening in early life for \u2018non-treatable\u2019 disorders: Ethics, evidence and proportionality. A report from the Health Council of the Netherlands","volume":"30","author":"Kalkman","year":"2022","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_919","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1016\/j.ymgme.2018.03.008","article-title":"Recommendations for newborn screening for galactokinase deficiency: A systematic review and evaluation of Dutch newborn screening data","volume":"124","author":"Stroek","year":"2018","journal-title":"Mol. Genet. Metab."},{"key":"ref_920","doi-asserted-by":"crossref","first-page":"1696","DOI":"10.1016\/j.jval.2022.06.010","article-title":"Cost-effectiveness of newborn screening for spinal muscular atrophy in the Netherlands","volume":"25","author":"Velikanova","year":"2022","journal-title":"Value Health"},{"key":"ref_921","doi-asserted-by":"crossref","unstructured":"Barendsen, R.W., Dijkstra, I.M.E., Visser, W.F., Alders, M., Bliek, J., Boelen, A., Bouva, M.J., van der Crabben, S.N., Elsinghorst, E., and van Gorp, A.G.M. (2020). Adrenoleukodystrophy newborn screening in the Netherlands (SCAN Study): The X-factor. Front. Cell Dev. Biol., 8.","DOI":"10.3389\/fcell.2020.00499"},{"key":"ref_922","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1002\/jimd.12571","article-title":"Sex-specific newborn screening for X-linked adrenoleukodystrophy","volume":"46","author":"Albersen","year":"2023","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_923","doi-asserted-by":"crossref","first-page":"1177","DOI":"10.1136\/jmg-2023-109206","article-title":"Newborn screening for primary carnitine deficiency: Who will benefit?\u2014A retrospective cohort study","volume":"60","author":"Crefcoeur","year":"2023","journal-title":"J. Med. Genet."},{"key":"ref_924","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1002\/jimd.12193","article-title":"Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening?","volume":"43","author":"Haijes","year":"2020","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_925","unstructured":"Masse, R., and Deckers, E. Personal communication."},{"key":"ref_926","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1002\/jmd2.12124","article-title":"Evaluation of 11\u2009years of newborn screening for maple syrup urine disease in the Netherlands and a systematic review of the literature: Strategies for optimization","volume":"54","author":"Stroek","year":"2020","journal-title":"JIMD Rep."},{"key":"ref_927","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1530\/EJE-19-1048","article-title":"Critical evaluation of the newborn screening for congenital hypothyroidism in the Netherlands","volume":"183","author":"Stroek","year":"2020","journal-title":"Eur. J. Endocrinol."},{"key":"ref_928","doi-asserted-by":"crossref","first-page":"653","DOI":"10.1136\/archdischild-2018-315972","article-title":"Evaluation of the Dutch neonatal screening for congenital adrenal hyperplasia","volume":"104","author":"Boelen","year":"2019","journal-title":"Arch. Dis. Child."},{"key":"ref_929","doi-asserted-by":"crossref","first-page":"2562","DOI":"10.1182\/blood-2022-163100","article-title":"Long-term follow up of Dutch patients with SCD diagnosed by neonatal screening\u2014Effect on the morbidity and mortality in The Netherlands","volume":"140","author":"Vuong","year":"2022","journal-title":"Blood"},{"key":"ref_930","doi-asserted-by":"crossref","first-page":"414","DOI":"10.1002\/jimd.12075","article-title":"Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes","volume":"42","author":"Bleeker","year":"2019","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_931","doi-asserted-by":"crossref","first-page":"e4487","DOI":"10.1210\/clinem\/dgab464","article-title":"Second-tier testing for 21-hydroxylase deficiency in the Netherlands: A newborn screening pilot study","volume":"106","author":"Stroek","year":"2021","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_932","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1016\/j.jcf.2018.07.008","article-title":"Newborn blood spot screening for cystic fibrosis with a four-step screening strategy in the Netherlands","volume":"18","author":"Bouva","year":"2019","journal-title":"J. Cyst. Fibros."},{"key":"ref_933","doi-asserted-by":"crossref","unstructured":"Dijkstra, A.M., Evers-van Vliet, K., Heiner-Fokkema, M.R., Bodewes, F.A.J.A., Bos, D.K., Zsiros, J., van Aerde, K.J., Koop, K., van Spronsen, F.J., and Lubout, C.M.A. (2023). A false-negative newborn screen for tyrosinemia type 1\u2014Need for re-evaluation of newborn screening with succinylacetone. Int. J. Neonatal Screen., 9.","DOI":"10.3390\/ijns9040066"},{"key":"ref_934","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1159\/000513516","article-title":"Improving the Dutch newborn screening for central congenital hypothyroidism by using 95% reference intervals for thyroxine-binding globulin","volume":"10","author":"Stroek","year":"2021","journal-title":"Eur. Thyroid J."},{"key":"ref_935","doi-asserted-by":"crossref","unstructured":"Van Rijt, W.J., Schielen, P.C., \u00d6zer, Y., Bijsterveld, K., Van der Sluijs, F.H., Derks, T.G., and Heiner-Fokkema, M.R. (2020). Instability of acylcarnitines in stored dried blood spots: The impact on retrospective analysis of biomarkers for inborn errors of metabolism. Int. J. Neonatal Screen., 6.","DOI":"10.3390\/ijns6040083"},{"key":"ref_936","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1186\/s12937-021-00722-4","article-title":"Neonatal heel prick screening TSH concentration in the Netherlands as indicator of iodine status","volume":"20","year":"2021","journal-title":"Nutr. J."},{"key":"ref_937","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1016\/j.cca.2022.12.011","article-title":"Newborn screening for cerebrotendinous xanthomatosis: A retrospective biomarker study using both flow-injection and UPLC-MS\/MS analysis in 20,000 newborns","volume":"539","author":"Vaz","year":"2023","journal-title":"Clin. Chim. Acta"},{"key":"ref_938","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1016\/j.clinbiochem.2023.03.001","article-title":"Machine learning to improve false-positive results in the Dutch newborn screening for congenital hypothyroidism","volume":"116","author":"Stroek","year":"2023","journal-title":"Clin. Biochem."},{"key":"ref_939","doi-asserted-by":"crossref","unstructured":"Veldman, A., Kiewiet, M.B.G., Heiner-Fokkema, M.R., Nelen, M.R., Sinke, R.J., Sikkema-Raddatz, B., Voorhoeve, E., Westra, D., Doll\u00e9, M.E.T., and Schielen, P.C.J.I. (2022). Towards next-generation sequencing (NGS)-based newborn screening: A technical study to prepare for the challenges ahead. Int. J. Neonatal Screen., 8.","DOI":"10.3390\/ijns8010017"},{"key":"ref_940","doi-asserted-by":"crossref","unstructured":"Tangeraas, T., S\u00e6ves, I., Klingenberg, C., J\u00f8rgensen, J., Kristensen, E., Gunnarsdottir, G., Hansen, E., Strand, J., Lundman, E., and Ferdinandusse, S. (2020). Performance of expanded newborn screening in Norway supported by post-analytical bioinformatics tools and rapid second-tier DNA analyses. Int. J. Neonatal Screen., 6.","DOI":"10.3390\/ijns6030051"},{"key":"ref_941","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1177\/0971721820964891","article-title":"Scientific citizenship\u2019s youngest domain: Function creep in Norway\u2019s newborn screening programme","volume":"26","author":"Skolbekken","year":"2021","journal-title":"Sci. Technol. Soc."},{"key":"ref_942","doi-asserted-by":"crossref","unstructured":"Ljungblad, U.W., Lindberg, M., Eklund, E.A., S\u00e6ves, I., Sagredo, C., Bj\u00f8rke-Monsen, A.L., and Tangeraas, T. (2022). A retrospective evaluation of the predictive value of newborn screening for vitamin B12 deficiency in symptomatic infants below 1 year of age. Int. J. Neonatal Screen., 8.","DOI":"10.3390\/ijns8040066"},{"key":"ref_943","doi-asserted-by":"crossref","first-page":"2315","DOI":"10.1111\/apa.16530","article-title":"Nitrous oxide in labour predicted newborn screening total homocysteine and is a potential risk factor for infant vitamin B12 deficiency","volume":"111","author":"Ljungblad","year":"2022","journal-title":"Acta Paediatr."},{"key":"ref_944","doi-asserted-by":"crossref","unstructured":"Tangeraas, T., Ljungblad, U.W., Lutvica, E., Kristensen, E., Rowe, A.D., Bj\u00f8rke-Monsen, A.L., Rootwelt-Revheim, T., S\u00e6ves, I., and Pettersen, R.D. (2023). Vitamin B12 deficiency (un-)detected using newborn screening in Norway. Int. J. Neonatal Screen., 9.","DOI":"10.3390\/ijns9010003"},{"key":"ref_945","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1016\/j.jcf.2015.12.017","article-title":"Implementation of newborn screening for cystic fibrosis in Norway. Results from the first three years","volume":"15","author":"Lundman","year":"2016","journal-title":"J. Cyst. Fibros."},{"key":"ref_946","doi-asserted-by":"crossref","first-page":"3003","DOI":"10.1093\/brain\/awad010","article-title":"BCKDK deficiency: A treatable neurodevelopmental disease amenable to newborn screening","volume":"146","author":"Tangeraas","year":"2023","journal-title":"Brain"},{"key":"ref_947","doi-asserted-by":"crossref","first-page":"1417","DOI":"10.3389\/fimmu.2020.01417","article-title":"Second-tier next generation sequencing integrated in nationwide newborn screening provides rapid molecular diagnostics of severe combined immunodeficiency","volume":"11","author":"Strand","year":"2020","journal-title":"Front. Immunol."},{"key":"ref_948","doi-asserted-by":"crossref","unstructured":"Hogner, S., Lundman, E., Strand, J., Ytre-Arne, M.E., Tangeraas, T., and Stray-Pedersen, A. (2023). Newborn genetic screening\u2014Still a role for Sanger sequencing in the era of NGS. Int. J. Neonatal Screen., 9.","DOI":"10.3390\/ijns9040067"},{"key":"ref_949","doi-asserted-by":"crossref","unstructured":"SMA NBS Alliance (2023, May 06). Newborn Screening for SMA in Poland. Available online: https:\/\/www.sma-screening-alliance.org\/newborn-screening-for-sma-in-poland\/.","DOI":"10.1016\/j.nmd.2023.07.102"},{"key":"ref_950","first-page":"39","article-title":"Advances in newborn screening and presymptomatic diagnosis of spinal muscular atrophy","volume":"10","year":"2020","journal-title":"Degener. Neurol. Neuromuscul. Dis."},{"key":"ref_951","doi-asserted-by":"crossref","first-page":"890860","DOI":"10.3389\/fneur.2022.890860","article-title":"Newborn screening and gene therapy in SMA: Challenges related to vaccinations","volume":"13","author":"Kotulska","year":"2022","journal-title":"Front. Neurol."},{"key":"ref_952","doi-asserted-by":"crossref","first-page":"1948","DOI":"10.3389\/fimmu.2020.01948","article-title":"Newborn screening for SCID and other severe primary immunodeficiency in the Polish-German transborder area: Experience from the first 14 months of collaboration","volume":"11","author":"Durda","year":"2020","journal-title":"Front. Immunol."},{"key":"ref_953","doi-asserted-by":"crossref","first-page":"2097","DOI":"10.1002\/ppul.24823","article-title":"Clinical characteristics of rare CFTR mutations causing cystic fibrosis in Polish population","volume":"55","author":"Zybert","year":"2020","journal-title":"Pediatr. Pulmonol."},{"key":"ref_954","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1186\/s13052-021-01040-5","article-title":"Impact of newborn screening for cystic fibrosis on clinical outcomes of pediatric patients: 10\u2009years\u2019 experience in Lodz Voivodship","volume":"47","author":"Mospinek","year":"2021","journal-title":"Ital. J. Pediatr."},{"key":"ref_955","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1016\/j.jped.2021.11.007","article-title":"Clinical complications in children with false-negative results in cystic fibrosis newborn screening","volume":"98","author":"Zybert","year":"2022","journal-title":"J. Pediatr."},{"key":"ref_956","doi-asserted-by":"crossref","first-page":"291","DOI":"10.5114\/pedm.2021.109123","article-title":"Moderate congenital adrenal hyperplasia in two girls diagnosed by newborn screening","volume":"27","author":"Niedziela","year":"2021","journal-title":"Pediatr. Endocrinol. Diabetes Metab."},{"key":"ref_957","doi-asserted-by":"crossref","first-page":"860862","DOI":"10.3389\/fendo.2022.860862","article-title":"Congenital hypothyroidism in preterm newborns\u2014The challenges of diagnostics and treatment: A review","volume":"13","author":"Klosinska","year":"2022","journal-title":"Front. Endocrinol."},{"key":"ref_958","doi-asserted-by":"crossref","first-page":"940152","DOI":"10.3389\/fendo.2022.940152","article-title":"The prevalence of hypothyroxinemia in premature newborns","volume":"13","author":"Stawerska","year":"2022","journal-title":"Front. Endocrinol."},{"key":"ref_959","doi-asserted-by":"crossref","unstructured":"Taybert, J., O\u0142tarzewski, M., and Sykut-Cegielska, J. (2022). Molecular background and disease prevalence of biotinidase deficiency in a Polish population-data based on the national newborn screening programme. Genes, 13.","DOI":"10.3390\/genes13050802"},{"key":"ref_960","doi-asserted-by":"crossref","unstructured":"Napi\u00f3rkowska-Orkisz, M., Gutysz-Wojnicka, A., Tanajewska, M., and Sadowska-Krawczenko, I. (2022). Evaluation of methods to minimize pain in newborns during capillary blood sampling for screening: A randomized clinical trial. Int. J. Environ. Res. Public Health, 19.","DOI":"10.3390\/ijerph19020870"},{"key":"ref_961","doi-asserted-by":"crossref","unstructured":"Costeira, M.J., Costa, P., Roque, S., Carvalho, I., Vilarinho, L., and Palha, J.A. (2024). History of neonatal screening of congenital hypothyroidism in Portugal. Int. J. Neonatal Screen., 10.","DOI":"10.3390\/ijns10010016"},{"key":"ref_962","doi-asserted-by":"crossref","unstructured":"Gon\u00e7alves, M.M., Marc\u00e3o, A., Sousa, C., Nogueira, C., Fonseca, H., Rocha, H., and Vilarinho, L. (2024). Portuguese neonatal screening program: A cohort study of 18 years using MS\/MS. Int. J. Neonatal Screen., 10.","DOI":"10.3390\/ijns10010025"},{"key":"ref_963","doi-asserted-by":"crossref","unstructured":"Marc\u00e3o, A., Barreto, C., Pereira, L., Vaz, L.G., Cavaco, J., Casimiro, A., F\u00e9lix, M., Silva, T.R., Barbosa, T., and Freitas, C. (2018). Cystic fibrosis newborn screening in Portugal: PAP value in populations with stringent rules for genetic studies. Int. J. Neonatal Screen., 4.","DOI":"10.3390\/ijns4030022"},{"key":"ref_964","unstructured":"Camacho, B., Constant, C., Pereira, L., and Barreto, C. (2022). Cystic fibrosis newborn screening in a Portuguese centre: Are we complying with European recommendations?. Lus\u00edadas Sci. J., 3."},{"key":"ref_965","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1177\/0969141316641149","article-title":"Molecular picture of cobalamin C\/D defects before and after newborn screening era","volume":"24","author":"Nogueira","year":"2017","journal-title":"J. Med. Screen."},{"key":"ref_966","doi-asserted-by":"crossref","unstructured":"Lipari Pinto, P., Florindo, C., Janeiro, P., Santos, R.L., Mexia, S., Rocha, H., Tavares de Almeida, I., Vilarinho, L., and Gaspar, A. (2022). Acquired vitamin B12 deficiency in newborns: Positive impact on newborn health through early detection. Nutrients, 14.","DOI":"10.3390\/nu14204397"},{"key":"ref_967","doi-asserted-by":"crossref","unstructured":"Guerra, I.M.S., Ferreira, H.B., Neves, B., Melo, T., Diogo, L.M., Domingues, M.R., and Moreira, A.S.P. (2020). Lipids and phenylketonuria: Current evidence points to the need for lipidomics studies. Arch. Biochem. Biophys., 688.","DOI":"10.1016\/j.abb.2020.108431"},{"key":"ref_968","doi-asserted-by":"crossref","first-page":"7085","DOI":"10.1007\/s00216-022-04221-1","article-title":"Dried blood spots in clinical lipidomics: Optimization and recent findings","volume":"414","author":"Ferreira","year":"2022","journal-title":"Anal. Bioanal. Chem."},{"key":"ref_969","unstructured":"PKU Romania (2023, May 06). Neonatal Screening for Phenylketonuria. Available online: https:\/\/www.pku-romania.ro\/en\/about-pku\/pku-diagnostic."},{"key":"ref_970","first-page":"416","article-title":"Actualities in neonatal endocrine and metabolic screening","volume":"17","author":"Dima","year":"2021","journal-title":"Acta Endocrinol."},{"key":"ref_971","first-page":"209","article-title":"Neonatal screening for congenital hypothyroidism in Romania: Data from MEDILOG medical information registry","volume":"15","author":"Nanu","year":"2019","journal-title":"Acta Endocrinol."},{"key":"ref_972","first-page":"437","article-title":"Screening of congenital hypothyroidism in North-East Romania. Benefits and messages for further improvement","volume":"16","author":"Bilha","year":"2020","journal-title":"Acta Endocrinol."},{"key":"ref_973","first-page":"22","article-title":"Recall rate in congenital hypothyroidism screening: Influence of the day of sample collection and lower cutoff","volume":"17","author":"Oprea","year":"2021","journal-title":"Acta Endocrinol."},{"key":"ref_974","doi-asserted-by":"crossref","unstructured":"Badiu Ti\u0219a, I., Achim, A.C., and Cozma-Petru\u021b, A. (2022). The importance of neonatal screening for galactosemia. Nutrients, 15.","DOI":"10.3390\/nu15010010"},{"key":"ref_975","unstructured":"Nova Medica (2023, May 08). More than 95,000 Newborns Have Undergone the Neonatal Screening Program in the Russian Federation. Available online: https:\/\/novamedica.com\/media\/theme_news\/p\/13731-more-than-95000-newborns-have-undergone-the-neonatal-screening-program-in-the-russian-federation."},{"key":"ref_976","unstructured":"GxP News (2023, May 06). Expanded Newborn Screening in Russia Will Be Provided in 10 Clinics. Available online: https:\/\/gxpnews.net\/en\/2022\/12\/expanded-newborn-screening-in-russia-will-be-provided-in-10-clinics\/."},{"key":"ref_977","doi-asserted-by":"crossref","first-page":"754073","DOI":"10.3389\/fphar.2021.754073","article-title":"An analysis of medical care services for children with rare diseases in the Russian Federation","volume":"12","author":"Volgina","year":"2021","journal-title":"Front. Pharmacol."},{"key":"ref_978","doi-asserted-by":"crossref","first-page":"774","DOI":"10.1136\/archdischild-2015-310152","article-title":"Paediatrics in Russia: Past, present and future","volume":"102","author":"Baranov","year":"2017","journal-title":"Arch Dis. Child."},{"key":"ref_979","doi-asserted-by":"crossref","first-page":"132","DOI":"10.2174\/1871523019999200730171600","article-title":"Newborn screening through TREC, TREC\/KREC system for primary immunodeficiency with limitation of TREC\/KREC. Comprehensive review","volume":"20","author":"Shinwari","year":"2021","journal-title":"Antiinflamm. Antiallergy Agents Med. Chem."},{"key":"ref_980","doi-asserted-by":"crossref","first-page":"504","DOI":"10.3345\/cep.2020.01270","article-title":"Modern diagnostic capabilities of neonatal screening for primary immunodeficiencies in newborns","volume":"64","author":"Khalturina","year":"2021","journal-title":"Clin. Exp. Pediatr."},{"key":"ref_981","doi-asserted-by":"crossref","first-page":"101","DOI":"10.32607\/actanaturae.11501","article-title":"Analysis of the TREC and KREC levels in the dried blood spots of healthy newborns with different gestational ages and weights","volume":"14","author":"Cheremokhin","year":"2022","journal-title":"Acta Naturae"},{"key":"ref_982","doi-asserted-by":"crossref","unstructured":"Kiselev, A., Maretina, M., Shtykalova, S., Al-Hilal, H., Maslyanyuk, N., Plokhih, M., Serebryakova, E., Frolova, M., Shved, N., and Krylova, N. (2024). Establishment of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in Saint Petersburg. Int. J. Neonatal Screen., 10.","DOI":"10.3390\/ijns10010009"},{"key":"ref_983","doi-asserted-by":"crossref","unstructured":"Sherman, V., Kondratyeva, E., Kashirskaya, N., Voronkova, A., Nikonova, V., Zhekaite, E., and Kutsev, S. (2020). Newborn screening for cystic fibrosis in Russia: A catalyst for improved care. Int. J. Neonatal Screen., 6.","DOI":"10.3390\/ijns6020034"},{"key":"ref_984","doi-asserted-by":"crossref","unstructured":"Gundorova, P., Kuznetcova, I.A., Baydakova, G.V., Stepanova, A.A., Itkis, Y.S., Kakaulina, V.S., Alferova, I.P., Lyazina, L.V., Andreeva, L.P., and Kanivets, I. (2021). BH4-deficient hyperphenylalaninemia in Russia. PLoS ONE, 16.","DOI":"10.1371\/journal.pone.0249608"},{"key":"ref_985","unstructured":"Regione Emilia-Romagna (2023, May 06). Newborn Screening, a Simple Test to Protect the Health of Babies. Information for Parents. Available online: https:\/\/salute.regione.emilia-romagna.it\/normativa-e-documentazione\/informative-material\/opuscolo-screening-neonatale."},{"key":"ref_986","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1007\/s00431-015-2630-5","article-title":"Changes in the incidence and etiology of congenital hypothyroidism detected during 30 years of a screening program in central Serbia","volume":"175","author":"Mitrovic","year":"2016","journal-title":"Eur. J. Pediatr."},{"key":"ref_987","doi-asserted-by":"crossref","first-page":"319","DOI":"10.24953\/turkjped.2019.03.001","article-title":"Thirty years of the newborn screening program in Central Serbia: The missed cases of congenital hypothyroidism","volume":"61","author":"Milenkovic","year":"2019","journal-title":"Turk. J. Pediatr."},{"key":"ref_988","unstructured":"The Serbian Monitor.com (2023, May 06). Spinal Muscular Atrophy Screenings in All Maternity Hospitals as of April. Available online: https:\/\/www.serbianmonitor.com\/en\/spinal-muscular-atrophy-screenings-in-all-maternity-hospitals-as-of-april\/."},{"key":"ref_989","doi-asserted-by":"crossref","unstructured":"Dluholuck\u00fd, S., and Knapkov\u00e1, M. (2017). The first results of extended newborn screening in Slovakia\u2014Differences between the Majority and the Roma Ethnic Group. Int. J. Neonatal Screen., 3.","DOI":"10.20944\/preprints201704.0084.v1"},{"key":"ref_990","first-page":"86","article-title":"Newborn screening in Slovenia","volume":"54","author":"Oblak","year":"2015","journal-title":"Zdr. Varst."},{"key":"ref_991","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1016\/j.clinbiochem.2017.10.016","article-title":"Next generation sequencing as a follow-up test in an expanded newborn screening programme","volume":"52","author":"Kovac","year":"2018","journal-title":"Clin. Biochem."},{"key":"ref_992","first-page":"256","article-title":"Expanded newborn screening program in Slovenia using tandem mass spectrometry and confirmatory next generation sequencing genetic testing","volume":"59","author":"Remec","year":"2020","journal-title":"Zdr. Varst."},{"key":"ref_993","doi-asserted-by":"crossref","first-page":"648493","DOI":"10.3389\/fgene.2021.648493","article-title":"Very long-chain acyl-coA dehydrogenase deficiency: High incidence of detected patients with expanded newborn screening program","volume":"12","author":"Remec","year":"2021","journal-title":"Front. Genet."},{"key":"ref_994","doi-asserted-by":"crossref","unstructured":"Perko, D., Gro\u0161elj, U., \u010cuk, V., Remec, \u017d.I., \u017derjav Tan\u0161ek, M., Drole Torkar, A., Krhin, B., Bicek, A., Oblak, A., and Battelino, T. (2023). Comparison of tandem mass spectrometry and the fluorometric method\u2014Parallel phenylalanine measurement on a large fresh sample series and implications for newborn screening for phenylketonuria. Int. J. Mol. Sci., 24.","DOI":"10.3390\/ijms24032487"},{"key":"ref_995","doi-asserted-by":"crossref","unstructured":"Perko, D., Repi\u010d Lampret, B., Remec, \u017d.I., \u017derjav Tan\u0161ek, M., Drole Torkar, A., Krhin, B., Bicek, A., Oblak, A., Battelino, T., and Gro\u0161elj, U. (2022). Optimizing the phenylalanine cut-off value in a newborn screening program. Genes, 13.","DOI":"10.3390\/genes13030517"},{"key":"ref_996","first-page":"e202102041","article-title":"Inicio, evoluci\u00f3n y situaci\u00f3n actual de los programas de cribado neonatal en Espa\u00f1a [Beginnings, evolution and current situation of the newborn screening programs in Spain]","volume":"95","year":"2021","journal-title":"Rev. Esp. Salud Publica"},{"key":"ref_997","first-page":"e202101024","article-title":"Los programas de cribado neonatal en Espa\u00f1a. Ciencia, investigaci\u00f3n y salud p\u00fablica, claves para su calidad y eficacia [The neonatal screening programs in Spain. Science, research and public health, keys to their quality and effectiveness]","volume":"95","year":"2021","journal-title":"Rev. Esp. Salud Publica"},{"key":"ref_998","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1080\/10408363.2020.1781778","article-title":"Identifying and overcoming barriers to harmonize newborn screening programs through consensus strategies","volume":"58","year":"2021","journal-title":"Crit. Rev. Clin. Lab. Sci."},{"key":"ref_999","first-page":"e202101021","article-title":"El cribado metab\u00f3lico del reci\u00e9n nacido como modelo asistencial de la medicina de precisi\u00f3n. Perspectiva desde la Asociaci\u00f3n Espa\u00f1ola para el Estudio de los Errores Cong\u00e9nitos del Metabolismo (AECOM) [The metabolic newborn screening as a healthcare model of the precision medicine. Perspective from the Spanish Association for the Study of Congenital Errors of Metabolism (AECOM)]","volume":"95","year":"2021","journal-title":"Rev. Esp. Salud Publica"},{"key":"ref_1000","first-page":"e1","article-title":"Medio siglo de cribado neonatal en Espa\u00f1a: Evoluci\u00f3n de los aspectos \u00e9ticos, legales y sociales (AELS). Parte I, aspectos \u00e9ticos","volume":"95","year":"2021","journal-title":"Rev. Esp. Salud Publica"},{"key":"ref_1001","first-page":"e1","article-title":"Medio siglo de cribado neonatal en Espa\u00f1a: Evoluci\u00f3n de los aspectos \u00e9ticos, legales y sociales (aels). Parte II, marco legal","volume":"95","year":"2021","journal-title":"Rev. Esp. Salud Publica"},{"key":"ref_1002","first-page":"e2 02101016","article-title":"Medio siglo de cribado neonatal en Espa\u00f1a: Evoluci\u00f3n de los aspectos \u00e9ticos, legales y sociales (AELS). Parte III, aspectos sociales [Half a century of newborn screening in Spain: Evolution of ethical, legal and social issues (ELSIs). Part III, social issues]","volume":"95","year":"2021","journal-title":"Rev. Esp. Salud Publica"},{"key":"ref_1003","first-page":"e202012177","article-title":"50 a\u00f1os del programa de cribado neonatal en Catalu\u00f1a [50 years of the neonatal screening program in Catalonia]","volume":"94","year":"2020","journal-title":"Rev. Esp. Salud Publica"},{"key":"ref_1004","first-page":"e202012161","article-title":"Evaluaci\u00f3n y perspectiva de 20 a\u00f1os de cribado neonatal en Galicia. Resultados del programa [Evaluation and perspective of 20 years of neonatal screening in Galicia. Program results]","volume":"94","year":"2020","journal-title":"Rev. Esp. Salud Publica"},{"key":"ref_1005","first-page":"e202012174","article-title":"Resultados del cribado neonatal de Andaluc\u00eda Occidental tras una d\u00e9cada de experiencia [Results of the neonatal screening on Western Andalusia after a decade of experience]","volume":"94","year":"2020","journal-title":"Rev. Esp. Salud Publica"},{"key":"ref_1006","doi-asserted-by":"crossref","first-page":"1465","DOI":"10.1007\/s00277-020-04044-z","article-title":"Fifteen years of newborn sickle cell disease screening in Madrid, Spain: An emerging disease in a European country","volume":"99","author":"Zamarro","year":"2020","journal-title":"Ann. Hematol."},{"key":"ref_1007","doi-asserted-by":"crossref","unstructured":"N\u00fa\u00f1ez-Jurado, D., Pay\u00e1n-Pern\u00eda, S., \u00c1lvarez-R\u00edos, A.I., Jim\u00e9nez-Jambrina, M., Concepcion P\u00e9rez-De-Soto, I., Jos\u00e9 Palma-Vallellano, A., Zapata-Bautista, R., Carlos Hern\u00e1ndez-Castellet, J., Paz Garrastazul-S\u00e1nchez, M., and Arqueros-Mart\u00ednez, V. (2022). Neonatal screening for sickle cell disease in Western Andalusia: Results and lessons learnt after 3 years of implementation. Am. J. Perinatol.","DOI":"10.1055\/s-0042-1759646"},{"key":"ref_1008","doi-asserted-by":"crossref","first-page":"1223","DOI":"10.1515\/jpem-2022-0340","article-title":"Newborn screening for propionic, methylmalonic acidemia and vitamin B12 deficiency. Analysis of 588,793 newborns","volume":"35","author":"Bellusci","year":"2022","journal-title":"J. Pediatr. Endocrinol. Metab."},{"key":"ref_1009","first-page":"e202012153","article-title":"Primer programa europeo de cribado neonatal para la inmunodeficiencia combinada grave: Experiencia de tres a\u00f1os en Catalu\u00f1a [First universal newborn screening program for severe combined immunodeficiency in Europe. Three-years\u2019 experience in Catalonia]","volume":"94","author":"Colobran","year":"2020","journal-title":"Rev. Esp. Salud Publica"},{"key":"ref_1010","doi-asserted-by":"crossref","unstructured":"Argudo-Ram\u00edrez, A., Mart\u00edn-Nalda, A., Gonz\u00e1lez de Aledo-Castillo, J.M., L\u00f3pez-Galera, R., Mar\u00edn-Soria, J.L., Pajares-Garc\u00eda, S., Mart\u00ednez-Gallo, M., Garc\u00eda-Prat, M., Colobran, R., and Riviere, J.G. (2021). Newborn screening for SCID. Experience in Spain (Catalonia). Int. J. Neonatal Screen., 7.","DOI":"10.3390\/ijns7030046"},{"key":"ref_1011","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1002\/jmd2.12265","article-title":"Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region","volume":"63","author":"Navarrete","year":"2022","journal-title":"JIMD Rep."},{"key":"ref_1012","first-page":"e202012185","article-title":"An\u00e1lisis de casos positivos de cribado neonatal de errores cong\u00e9nitos del metabolismo en la Comunidad de Madrid [Newborn Screening Program in the Community of Madrid: Evaluation of positive cases]","volume":"94","year":"2020","journal-title":"Rev. Esp. Salud Publica"},{"key":"ref_1013","first-page":"e202012186","article-title":"An\u00e1lisis del grado de sospecha cl\u00ednica en pacientes con hiperplasia suprarrenal cong\u00e9nita por d\u00e9ficit de 21 hidroxilasa antes de la obtenci\u00f3n del resultado del cribado neonatal en la Comunidad de Madrid [Analysis of the degree of clinical suspect in patients with congenital adrenal hyperplasia by 21-hydroxylase deficiency before obtaining the result of the newborn screening program of the autonomous Community of Madrid]","volume":"94","year":"2020","journal-title":"Rev. Esp. Salud Publica"},{"key":"ref_1014","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1016\/j.cca.2020.11.009","article-title":"Challenges in screening for congenital hypothyroidism: Optimization of thyrotropin cut-off values","volume":"512","author":"Delgado","year":"2021","journal-title":"Clin. Chim. Acta"},{"key":"ref_1015","first-page":"e202012175","article-title":"El papel de la salud publica como clave del \u00e9xito del programa de cribado neonatal en el Pa\u00eds Vasco [The role of public health as a key to the success of the neonatal screening program in the Basque Country]","volume":"94","year":"2020","journal-title":"Rev. Esp. Salud Publica"},{"key":"ref_1016","first-page":"e202012163","article-title":"An\u00e1lisis de la implementaci\u00f3n de un sistema de transporte unificado de las muestras de cribado neonatal en Catalu\u00f1a [Analysis of the implementation of a unified transportation system of the neonatal screening samples in Catalonia]","volume":"94","year":"2020","journal-title":"Rev. Esp. Salud Publica"},{"key":"ref_1017","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1186\/s13023-021-01784-7","article-title":"Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: Results on 258,637 newborns","volume":"16","author":"Pajares","year":"2021","journal-title":"Orphanet. J. Rare Dis."},{"key":"ref_1018","first-page":"11","article-title":"Neonatal cystic fibrosis screening: Analysis and differences in immunoreactive trypsin levels in newborns with a positive screen","volume":"95","year":"2021","journal-title":"An. Pediatr. (Engl. Ed.)"},{"key":"ref_1019","doi-asserted-by":"crossref","first-page":"1513","DOI":"10.1007\/s00467-022-05732-w","article-title":"Phenotypic characterization of a pediatric cohort with cystinuria and usefulness of newborn screening","volume":"38","year":"2023","journal-title":"Pediatr. Nephrol."},{"key":"ref_1020","first-page":"e202101010","article-title":"Cribado neonatal del hipotiroidismo cong\u00e9nito [Neonatal screening for congenital hypothyroidism]","volume":"95","author":"Rocha","year":"2021","journal-title":"Rev. Esp. Salud Publica"},{"key":"ref_1021","first-page":"297","article-title":"TSH elevation in neonatal screening as the first manifestation of other associated diseases","volume":"70","year":"2023","journal-title":"Endocrinol. Diabetes Nutr. (Engl. Ed.)"},{"key":"ref_1022","first-page":"e202101009","article-title":"M\u00e9todos para la evaluaci\u00f3n econ\u00f3mica de programas de cribado neonatal [Cost-effectiveness methods of newborn screening assessment]","volume":"95","author":"Castilla","year":"2021","journal-title":"Rev. Esp. Salud Publica"},{"key":"ref_1023","doi-asserted-by":"crossref","unstructured":"Prieto-Gonz\u00e1lez, D., Castilla-Rodr\u00edguez, I., Gonz\u00e1lez, E., and Couce, M.L. (2019). Towards the automated economic assessment of newborn screening for rare diseases. J. Biomed. Inform., 95.","DOI":"10.1016\/j.jbi.2019.103216"},{"key":"ref_1024","doi-asserted-by":"crossref","first-page":"556","DOI":"10.1038\/s41431-018-0330-0","article-title":"Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program","volume":"27","author":"Navarrete","year":"2019","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_1025","unstructured":"Macias, R.Y. (2024, February 03). History, current situation and future perspectives of neonatal screening for rare diseases in Spain. Asociacion Espa\u00f1ola de Laboratorios de Medicamentos Hu\u00e9rfanos y Ultrahu\u00e9rfanos (ELMHU). Available online: https:\/\/aelmhu.es\/en\/articulos\/cribado-neonatal-de-enfermedades-raras\/."},{"key":"ref_1026","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1515\/cclm-2023-0216","article-title":"Analysis of a second-tier test panel in dried blood spot samples using liquid chromatography-tandem mass spectrometry in Catalonia\u2019s newborn screening programme","volume":"62","author":"Collado","year":"2024","journal-title":"Clin. Chem. Lab. Med."},{"key":"ref_1027","first-page":"e202202012","article-title":"Cribado neonatal gen\u00f3mico. Perspectiva de la Comisi\u00f3n de \u00e9tica de la Asociaci\u00f3n Espa\u00f1ola de Gen\u00e9tica Humana. Parte I. Las tecnolog\u00edas de secuenciaci\u00f3n masiva (NGS) y su aplicaci\u00f3n al cribado neonatal. Desaf\u00edos y oportunidades [Genomic newborn screening. Perspective from the Ethics commission of the Spanish Society for Human Genetics. Part I. Next generation sequencing technologies applied to newborn screening. Challenges and opportunities]","volume":"96","year":"2022","journal-title":"Rev. Esp. Salud Publica"},{"key":"ref_1028","first-page":"e202203030","article-title":"Cribado neonatal gen\u00f3mico. Perspectiva de la Comisi\u00f3n de \u00e9tica de la Asociaci\u00f3n Espa\u00f1ola de Gen\u00e9tica Humana. Parte II: Aspectos \u00c9ticos, Legales y Sociales (AELS) de la introducci\u00f3n de las tecnolog\u00edas de secuenciaci\u00f3n masiva (NGS) en un programa de cribado neonatal de salud p\u00fablica [Genomic newborn screening. Perspective from the Ethics Commission of the Spanish Society for Human Genetics. Part II: Ethical, legal and social issues (ELSIs) of the introduction of next generation sequencing technologies in a public health newborn screening program]","volume":"96","year":"2022","journal-title":"Rev. Esp. Salud Publica"},{"key":"ref_1029","unstructured":"Zetterstr\u00f6m, R.H. Personal communication."},{"key":"ref_1030","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1007\/s10875-016-0347-5","article-title":"Newborn Screening for severe primary immunodeficiency diseases in Sweden-a 2-year pilot TREC and KREC screening study","volume":"37","author":"Barbaro","year":"2017","journal-title":"J. Clin. Immunol."},{"key":"ref_1031","doi-asserted-by":"crossref","unstructured":"G\u00f6ngrich, C., Ekwall, O., Sundin, M., Brodszki, N., Fasth, A., Marits, P., Dysting, S., Jonsson, S., Barbaro, M., and Wedell, A. (2021). First year of TREC-based national SCID screening in Sweden. Int. J. Neonatal Screen., 7.","DOI":"10.3390\/ijns7030059"},{"key":"ref_1032","doi-asserted-by":"crossref","unstructured":"S\u00f6rensen, L., Von D\u00f6beln, U., \u00c5hlman, H., Ohlsson, A., Engvall, M., Naess, K., Backman-Johansson, C., Nordqvist, Y., Wedell, A., and Zetterstr\u00f6m, R.H. (2020). Expanded screening of one million Swedish babies with R4S and CLIR for post-analytical evaluation of data. Int. J. Neonatal Screen., 6.","DOI":"10.3390\/ijns6020042"},{"key":"ref_1033","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1002\/jmd2.12268","article-title":"Very long-chain acyl-CoA dehydrogenase deficiency in a Swedish cohort: Clinical symptoms, newborn screening, enzyme activity, and genetics","volume":"63","author":"Olsson","year":"2022","journal-title":"JIMD Rep."},{"key":"ref_1034","doi-asserted-by":"crossref","unstructured":"Heather, N.L., and Nordenstr\u00f6m, A. (2021). Newborn screening for CAH\u2014challenges and opportunities. Int. J. Neonatal Screen., 7.","DOI":"10.3390\/ijns7010011"},{"key":"ref_1035","doi-asserted-by":"crossref","unstructured":"Lajic, S., Karlsson, L., Zetterstr\u00f6m, R.H., Falhammar, H., and Nordenstr\u00f6m, A. (2020). The success of a screening program is largely dependent on close collaboration between the laboratory and the clinical follow-up of the patients. Int. J. Neonatal Screen., 6.","DOI":"10.3390\/ijns6030068"},{"key":"ref_1036","doi-asserted-by":"crossref","unstructured":"Zetterstr\u00f6m, R.H., Karlsson, L., Falhammar, H., Lajic, S., and Nordenstr\u00f6m, A. (2020). Update on the Swedish newborn screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Int. J. Neonatal Screen., 6.","DOI":"10.3390\/ijns6030071"},{"key":"ref_1037","doi-asserted-by":"crossref","first-page":"536","DOI":"10.1093\/ejendo\/lvad064","article-title":"Neonatal screening for congenital hypothyroidism in Sweden 1980\u20132013: Effects of lowering the thyroid-stimulating hormone threshold","volume":"188","author":"Gunnerbeck","year":"2023","journal-title":"Eur. J. Endocrinol."},{"key":"ref_1038","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1016\/j.cca.2018.01.008","article-title":"Study of measurement of the alcohol biomarker phosphatidylethanol (PEth) in dried blood spot (DBS) samples and application of a volumetric DBS device","volume":"479","author":"Beck","year":"2018","journal-title":"Clin. Chim. Acta"},{"key":"ref_1039","doi-asserted-by":"crossref","unstructured":"Ohlsson, A., Rehnholm, K., Shubham, K., and von D\u00f6beln, U. (2019). Incidence of glucose-6-phosphate dehydrogenase deficiency among Swedish newborn infants. Int. J. Neonatal Screen., 5.","DOI":"10.3390\/ijns5040038"},{"key":"ref_1040","doi-asserted-by":"crossref","first-page":"5601","DOI":"10.1007\/s00216-021-03211-z","article-title":"Measurement of the alcohol biomarker phosphatidylethanol (PEth) in dried blood spots and venous blood-importance of inhibition of post-sampling formation from ethanol","volume":"413","author":"Beck","year":"2021","journal-title":"Anal. Bioanal. Chem."},{"key":"ref_1041","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1002\/jimd.12035","article-title":"Characteristics and outcomes of patients with formiminoglutamic aciduria detected through newborn screening","volume":"42","author":"Ganetzky","year":"2019","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_1042","unstructured":"Uppsala Univesitat (2023, May 12). Screen4Care: Accelerating Diagnosis for Rare Disease Patients through Genetic Newborn Screening & AI. Center for Research Ethics & Bioethics (CRB). Available online: https:\/\/www.crb.uu.se\/news\/item\/?tarContentId=975702."},{"key":"ref_1043","unstructured":"(2023, May 20). Newborn Screening. Newborn Screening Switzerland. Interesting Facts for Parents and Professionals. Available online: https:\/\/www.neoscreening.ch\/en\/."},{"key":"ref_1044","first-page":"68","article-title":"P\u00e9diatrie\u2014D\u00e9pistage des nouveau-n\u00e9s en Suisse pour les d\u00e9ficiences s\u00e9v\u00e8res \u00e0 lymphocytes T et B [Newborn screening for severe T and B lymphocyte deficiencies in Switzerland]","volume":"17","author":"Fouriki","year":"2021","journal-title":"Rev. Med. Suisse"},{"key":"ref_1045","doi-asserted-by":"crossref","first-page":"w20254","DOI":"10.4414\/smw.2020.20254","article-title":"Swiss newborn screening for severe T and B cell deficiency with a combined TREC\/KREC assay\u2014Management recommendations","volume":"150","author":"Prader","year":"2020","journal-title":"Swiss Med. Wkly."},{"key":"ref_1046","doi-asserted-by":"crossref","first-page":"554","DOI":"10.1007\/s10875-022-01427-x","article-title":"Fatal RSV in SCID: The importance of infection prevention despite newborn screening","volume":"43","author":"Soomann","year":"2023","journal-title":"J. Clin. Immunol."},{"key":"ref_1047","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1016\/j.clinbiochem.2020.02.007","article-title":"The application of fully automated dried blood spot analysis for liquid chromatography-tandem mass spectrometry using the CAMAG DBS-MS 500 autosampler","volume":"82","author":"Gaugler","year":"2020","journal-title":"Clin. Biochem."},{"key":"ref_1048","doi-asserted-by":"crossref","unstructured":"Hijman, A.I., Konrad, D., and Fingerhut, R. (2020). Determining reference ranges for total t4 in dried blood samples for newborn screening. Int. J. Neonatal Screen., 6.","DOI":"10.3390\/ijns6010017"},{"key":"ref_1049","doi-asserted-by":"crossref","unstructured":"Fingerhut, R. (2021). Newborn screening for congenital hypothyroidism\u2014Clinical evaluation and comparison of different test kits for the determination of TSH in dried blood samples on two different platforms. Int. J. Neonatal Screen., 7.","DOI":"10.3390\/ijns7030051"},{"key":"ref_1050","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1136\/archdischild-2021-323549","article-title":"Immunoreactive trypsinogen in healthy newborns and infants with cystic fibrosis","volume":"108","author":"Fingerhut","year":"2023","journal-title":"Arch. Dis. Child. Fetal Neonatal Ed."},{"key":"ref_1051","doi-asserted-by":"crossref","first-page":"1087","DOI":"10.1097\/INF.0000000000001978","article-title":"Decline of seroprevalence and incidence of congenital toxoplasmosis despite changing prevention policy\u2014Three decades of cord-blood screening in Northwestern Switzerland","volume":"37","author":"Rudin","year":"2018","journal-title":"Pediatr. Infect. Dis. J."},{"key":"ref_1052","unstructured":"Baby Health Check (2023, May 14). Newborn Screening of the Next Generation. Available online: https:\/\/www.babyhealthcheck.com\/ch\/?lang=en."},{"key":"ref_1053","doi-asserted-by":"crossref","first-page":"34","DOI":"10.3345\/kjp.2019.00465","article-title":"Global prevalence of classic phenylketonuria based on neonatal screening program data: Systematic review and meta-analysis","volume":"63","author":"Shoraka","year":"2020","journal-title":"Clin. Exp. Pediatr."},{"key":"ref_1054","doi-asserted-by":"crossref","first-page":"473","DOI":"10.5152\/TurkArchPediatr.2022.16082022","article-title":"Newborn screening: From the past to the future","volume":"57","year":"2022","journal-title":"Turk. Arch. Pediatr."},{"key":"ref_1055","doi-asserted-by":"crossref","first-page":"703","DOI":"10.1515\/jpem-2019-0571","article-title":"Institutional experience of newborn screening for inborn metabolism disorders by tandem MS in the Turkish population","volume":"33","author":"Demirelce","year":"2020","journal-title":"J. Pediatr. Endocrinol. Metab."},{"key":"ref_1056","doi-asserted-by":"crossref","first-page":"63","DOI":"10.5582\/irdr.2022.01039","article-title":"Expanded newborn bloodspot screening: Developed country examples and what can be done in Turkey","volume":"11","author":"Fidan","year":"2022","journal-title":"Intractable Rare Dis. Res."},{"key":"ref_1057","unstructured":"Daily Sabah (2023, May 17). Turkey Will Soon Screen Newborns for Rare Disease SMA. Available online: https:\/\/www.dailysabah.com\/turkey\/turkey-will-soon-screen-newborns-for-rare-disease-sma\/news."},{"key":"ref_1058","unstructured":"T\u00fcrkiye SMA Vakfi (2023, May 17). Newborn Screening. Available online: https:\/\/www.sma.org.tr\/en\/newborn-screening."},{"key":"ref_1059","unstructured":"Genome Web (2023, May 17). Turkish MDx Startup Elm Genomics Rolls Out Newborn Sequencing Test. Available online: https:\/\/www.genomeweb.com\/molecular-diagnostics\/turkish-mdx-startup-elm-genomics-rolls-out-newborn-sequencing-test#.ZGVwptbMI1g."},{"key":"ref_1060","doi-asserted-by":"crossref","first-page":"748","DOI":"10.1055\/s-0041-1731044","article-title":"Neonatal lymphopenia screening is important for early diagnosis of severe combined immunodeficiency","volume":"40","author":"Poyraz","year":"2023","journal-title":"Am. J. Perinatol."},{"key":"ref_1061","doi-asserted-by":"crossref","unstructured":"Bozdogan, S.T., Mujde, C., Boga, I., Sonmezler, O., Hanta, A., Rencuzogullari, C., Ozcan, D., Altintas, D.U., and Bisgin, A. (2021). Current status of genetic diagnosis laboratories and frequency of genetic variants associated with cystic fibrosis through a newborn-screening program in Turkey. Genes, 12.","DOI":"10.3390\/genes12020206"},{"key":"ref_1062","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1002\/ppul.25778","article-title":"Cystic fibrosis newborn screening: Five-year experience from a tertiary care center","volume":"57","author":"Emiralioglu","year":"2022","journal-title":"Pediatr. Pulmonol."},{"key":"ref_1063","first-page":"1067","article-title":"Evaluation of specificity and sensitivity of IRT\/IRT protocol in the cystic fibrosis newborn screening program: 6-year experience of three tertiary centers","volume":"182","author":"Asfuroglu","year":"2023","journal-title":"Eur. J. Pediatr."},{"key":"ref_1064","unstructured":"Topuz, \u015e., Ta\u015fg\u0131t, A., \u00c7ilesiz, E., G\u00f6k\u00e7e, R., \u00dclger, D.A., and O\u011fuz, \u015e.S. (2021). Views of mothers about national newborn screening tests performed in Turkey. Iran. Red Crescent Med. J., 23."},{"key":"ref_1065","first-page":"382","article-title":"Maternal Inborn Errors of Metabolism Detected in Expanded Newborn Metabolic Screening","volume":"58","author":"Tin","year":"2023","journal-title":"Turk. Arch. Pediatr."},{"key":"ref_1066","unstructured":"(2023, May 07). YouTube. Expanded Neonatal Screening in Ukraine: Implementation of European and World Experience. Available online: https:\/\/www.youtube.com\/watch?v=nJ9MAKiRUcc."},{"key":"ref_1067","first-page":"98","article-title":"Child health care system in Ukraine","volume":"55","author":"Loboda","year":"2020","journal-title":"Turk. Arch. Pediatr."},{"key":"ref_1068","doi-asserted-by":"crossref","first-page":"999664","DOI":"10.3389\/fimmu.2022.999664","article-title":"Newborn screening for severe combined immunodeficiency: The results of the first pilot TREC and KREC study in Ukraine with involving of 10,350 neonates","volume":"13","author":"Boyarchuk","year":"2022","journal-title":"Front. Immunol."},{"key":"ref_1069","unstructured":"(2023, May 23). NHS Inform. Blood Spot Test. Available online: https:\/\/www.nhsinform.scot\/healthy-living\/screening\/newborn-screening\/blood-spot-test."},{"key":"ref_1070","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1186\/s13023-018-0921-4","article-title":"Economic impact of screening for X-linked Adrenoleukodystrophy within a newborn blood spot screening program","volume":"13","author":"Bessey","year":"2018","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_1071","doi-asserted-by":"crossref","unstructured":"Bessey, A., Chilcott, J., Pandor, A., and Paisley, S. (2020). The cost-effectiveness of expanding the UK newborn bloodspot screening programme to include five additional inborn errors of metabolism. Int. J. Neonatal Screen., 6.","DOI":"10.3390\/ijns6040093"},{"key":"ref_1072","doi-asserted-by":"crossref","unstructured":"Bessey, A., Chilcott, J., Leaviss, J., de la Cruz, C., and Wong, R. (2019). A cost-effectiveness analysis of newborn screening for severe combined immunodeficiency in the UK. Int. J. Neonatal Screen., 5.","DOI":"10.3390\/ijns5030028"},{"key":"ref_1073","doi-asserted-by":"crossref","unstructured":"Fusco, F., Chudleigh, J., Holder, P., Bonham, J.R., Southern, K.W., Simpson, A., Moody, L., Olander, E.K., Chinnery, H., and Morris, S. (2022). Delivering positive newborn screening results: Cost analysis of existing practice versus innovative, co-designed strategies from the ReSPoND study. Int. J. Neonatal Screen., 8.","DOI":"10.3390\/ijns8010019"},{"key":"ref_1074","doi-asserted-by":"crossref","unstructured":"Chudleigh, J., Holder, P., Fusco, F., Bonham, J.R., Bryon, M., Moody, L., Morris, S., Olander, E.K., Simpson, A., and Chinnery, H. (2022). Co-Designed Strategies for Delivery of Positive Newborn Bloodspot Screening Results to Parents: The ReSPoND Mixed-Methods Study, National Institute for Health and Care Research.","DOI":"10.3310\/HTXH9624"},{"key":"ref_1075","doi-asserted-by":"crossref","first-page":"e037081","DOI":"10.1136\/bmjopen-2020-037081","article-title":"Qualitative exploration of health professionals\u2019 experiences of communicating positive newborn bloodspot screening results for nine conditions in England","volume":"10","author":"Chudleigh","year":"2020","journal-title":"BMJ Open"},{"key":"ref_1076","doi-asserted-by":"crossref","unstructured":"Barben, J., and Chudleigh, J. (2020). Processing newborn bloodspot screening results for CF. Int. J. Neonatal Screen., 6.","DOI":"10.3390\/ijns6020025"},{"key":"ref_1077","doi-asserted-by":"crossref","first-page":"e044755","DOI":"10.1136\/bmjopen-2020-044755","article-title":"Processing of positive newborn screening results: A qualitative exploration of current practice in England","volume":"10","author":"Chudleigh","year":"2020","journal-title":"BMJ Open"},{"key":"ref_1078","doi-asserted-by":"crossref","unstructured":"Holder, P., Cheetham, T., Cocca, A., Chinnery, H., and Chudleigh, J. (2021). Processing of positive newborn screening results for congenital hypothyroidism: A qualitative exploration of current practice in England. Int. J. Neonatal Screen., 7.","DOI":"10.3390\/ijns7040064"},{"key":"ref_1079","doi-asserted-by":"crossref","first-page":"e050773","DOI":"10.1136\/bmjopen-2021-050773","article-title":"Process evaluation of co-designed interventions to improve communication of positive newborn bloodspot screening results","volume":"11","author":"Chudleigh","year":"2021","journal-title":"BMJ Open"},{"key":"ref_1080","doi-asserted-by":"crossref","first-page":"1313","DOI":"10.1007\/s00431-020-03829-8","article-title":"Communicating cystic fibrosis newborn screening results to parents","volume":"180","author":"Seddon","year":"2021","journal-title":"Eur. J. Pediatr."},{"key":"ref_1081","doi-asserted-by":"crossref","first-page":"114367","DOI":"10.1016\/j.socscimed.2021.114367","article-title":"Absorbing it all: A meta-ethnography of parents\u2019 unfolding experiences of newborn screening","volume":"287","author":"White","year":"2021","journal-title":"Soc. Sci. Med."},{"key":"ref_1082","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1136\/thoraxjnl-2019-213179","article-title":"Impact of newborn screening on outcomes and social inequalities in cystic fibrosis: A UK CF registry-based study","volume":"75","author":"Southern","year":"2020","journal-title":"Thorax"},{"key":"ref_1083","doi-asserted-by":"crossref","unstructured":"Chudleigh, J., and Chinnery, H. (2020). Psychological Impact of NBS for CF. Int. J. Neonatal Screen., 6.","DOI":"10.3390\/ijns6020027"},{"key":"ref_1084","doi-asserted-by":"crossref","first-page":"114972","DOI":"10.1016\/j.socscimed.2022.114972","article-title":"\u2018We\u2019re kind of like genetic nomads\u2019: Parents\u2019 experiences of biographical disruption and uncertainty following in\/conclusive results from newborn cystic fibrosis screening","volume":"301","author":"Boardman","year":"2022","journal-title":"Soc. Sci. Med."},{"key":"ref_1085","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1136\/archdischild-2020-318999","article-title":"Cystic fibrosis newborn screening: The importance of bloodspot sample quality","volume":"106","author":"Doull","year":"2021","journal-title":"Arch. Dis. Child."},{"key":"ref_1086","doi-asserted-by":"crossref","unstructured":"Kinsella, S., Hopkins, H., Cooper, L., and Bonham, J.R. (2022). A public dialogue to inform the use of wider genomic testing when used as part of newborn screening to identify cystic fibrosis. Int. J. Neonatal Screen., 8.","DOI":"10.3390\/ijns8020032"},{"key":"ref_1087","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1016\/S0140-6736(22)01378-2","article-title":"UK explores whole-genome sequencing for newborn babies","volume":"400","author":"Burki","year":"2022","journal-title":"Lancet"},{"key":"ref_1088","doi-asserted-by":"crossref","first-page":"866168","DOI":"10.3389\/fgene.2022.866168","article-title":"Developing a national newborn genomes program: An approach driven by ethics, engagement and co-design","volume":"13","author":"Pichini","year":"2022","journal-title":"Front. Genet."},{"key":"ref_1089","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1080\/20502877.2022.2124582","article-title":"Psychological and ethical challenges of introducing whole genome sequencing into routine newborn screening: Lessons learned from existing newborn screening","volume":"29","author":"Ulph","year":"2023","journal-title":"New Bioeth."},{"key":"ref_1090","first-page":"e2","article-title":"Ethical issues raised by new genomic technologies: The case study of newborn genome screening","volume":"1","author":"Horton","year":"2023","journal-title":"Camb. Prism. Precis. Med."},{"key":"ref_1091","unstructured":"Harris, M. (2023, May 27). UK NSC Recommends Introduction of Screening for Tyrosinaemia in Newborns. GOV.UK. Blog UK National Screening Committee, Available online: https:\/\/nationalscreening.blog.gov.uk\/2023\/02\/02\/uk-nsc-recommends-introduction-of-screening-for-tyrosinaemia-in-newborns\/."},{"key":"ref_1092","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1111\/cei.13642","article-title":"Newborn screening for severe combined immunodeficiency\u2014Coming to a region near you soon","volume":"205","author":"Elliman","year":"2021","journal-title":"Clin. Exp. Immunol."},{"key":"ref_1093","doi-asserted-by":"crossref","unstructured":"Elliman, D. (2022). Study design for an evaluation of newborn screening for SCID in the UK. Int. J. Neonatal Screen., 8.","DOI":"10.3390\/ijns8010004"},{"key":"ref_1094","doi-asserted-by":"crossref","unstructured":"Adams, S.P., Gravett, E., Kent, N., Kricke, S., Ifederu, A., Scoto, M., Samsuddin, S., and Muntoni, F. (2021). Screening of neonatal UK dried blood spots using a duplex SMN1 screening assay. Int. J. Neonatal Screen., 7.","DOI":"10.3390\/ijns7040069"},{"key":"ref_1095","unstructured":"University of Oxford\u2014News and Events (2021, March 23). First UK Pilot Study of Newborn Screening for Spinal Muscular Atrophy Launched in Oxford. Available online: https:\/\/www.ox.ac.uk\/news\/2022-03-11-first-uk-pilot-study-newborn-screening-spinal-muscular-atrophy-launched-oxford."},{"key":"ref_1096","doi-asserted-by":"crossref","first-page":"1252","DOI":"10.1136\/jnnp-2021-327459","article-title":"Maximising returns: Combining newborn screening with gene therapy for spinal muscular atrophy","volume":"92","author":"Gillingwater","year":"2021","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"ref_1097","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1177\/00369330221078994","article-title":"A call to introduce newborn screening for spinal muscular atrophy (SMA) in Scotland","volume":"67","author":"Gillingwater","year":"2022","journal-title":"Scott. Med. J."},{"key":"ref_1098","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1038\/s43856-022-00189-2","article-title":"Feasibility and ethics of using data from the Scottish newborn blood spot archive for research","volume":"2","author":"McCartney","year":"2022","journal-title":"Commun. Med."},{"key":"ref_1099","doi-asserted-by":"crossref","first-page":"108349","DOI":"10.1016\/j.ymgme.2024.108349","article-title":"Improving newborn screening test performance for metachromatic leukodystrophy: Recommendation from a pre-pilot study that identified a late-infantile case for treatment","volume":"142","author":"Wu","year":"2024","journal-title":"Mol. Genet. Metab."},{"key":"ref_1100","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1136\/archdischild-2022-324394","article-title":"Assessing maternal alcohol consumption in pregnancy: Does phosphatidylethanol measured from day 5 newborn blood spot cards have any value? An observational, population-based study","volume":"108","author":"Henderson","year":"2023","journal-title":"Arch. Dis. Child."},{"key":"ref_1101","doi-asserted-by":"crossref","unstructured":"Cantley, N.W.P., Barski, R., Kemp, H., Hogg, S.L., Wu, H.Y.T., Bowron, A., Collingwood, C., Cundick, J., Hart, C., and Shakespeare, L. (2024). Incidental detection of classical galactosemia through newborn screening for phenylketonuria: A 10-year retrospective audit to determine the efficacy of this approach. Int. J. Neonatal Screen., 10.","DOI":"10.3390\/ijns10010002"},{"key":"ref_1102","unstructured":"Wilsdon, T., Saada, R., and Ferguson, M. (2024, January 20). A Landscape Assessment of Newborn Screening in Europe. Technology Network Diagnostics. Available online: https:\/\/www.technologynetworks.com\/diagnostics\/blog\/a-landscape-assessment-of-newborn-screening-in-europe-359964."},{"key":"ref_1103","unstructured":"United Nations\u2014ECLAC (2023, March 11). Member States and Associate Members. Available online: https:\/\/www.cepal.org\/en\/about\/member-states."},{"key":"ref_1104","unstructured":"United Nations (2023, February 23). About Us [Economic Commission for Latin America and the Caribbean\u2014ECLAC]. Available online: https:\/\/www.cepal.org\/en\/headquarters-and-offices\/eclac-caribbean\/about-us."},{"key":"ref_1105","doi-asserted-by":"crossref","first-page":"322","DOI":"10.1002\/ajmg.c.31899","article-title":"Newborn screening in Latin America: A brief overview of the state of the art","volume":"187","author":"Borrajo","year":"2021","journal-title":"Am. J. Med. Genet. C Semin. Med. Genet."},{"key":"ref_1106","doi-asserted-by":"crossref","first-page":"1053559","DOI":"10.3389\/fgene.2022.1053559","article-title":"Opportunities and challenges for newborn screening and early diagnosis of rare diseases in Latin America","volume":"13","author":"Giugliani","year":"2022","journal-title":"Front. Genet."},{"key":"ref_1107","doi-asserted-by":"crossref","unstructured":"Knight-Madden, J., Lee, K., Elana, G., Elenga, N., Marcheco-Teruel, B., Keshi, N., Etien ne-Julan, M., King, L., Asnani, M., and Romana, M. (2019). Newborn screening for sickle cell disease in the Caribbean: An update of the present situation and of the disease prevalence. Int. J. Neonatal Screen., 5.","DOI":"10.3390\/ijns5010005"},{"key":"ref_1108","unstructured":"Borrajo, G., Pistaccio, L., and Parente, M. (2015). External quality assurance program for neonatal screening (PEEC-PN): A 15-year trajectory. J. Inborn Errors Metab. Screen., 3, Available online: http:\/\/www.jiems-journal.org\/storage\/files\/20190513155803_2015.pdf."},{"key":"ref_1109","unstructured":"Borrajo, G.J.C. Programa de evaluaci\u00f3n externa de calidad\u2014Pesquisa neonatal. Fundaci\u00f3n Bioqu\u00edmica Argentina, La Plata, Argentina. Personal communication, Encuesta # 136\u2014Junio 2023."},{"key":"ref_1110","unstructured":"Borrajo, G.J.C., Pistaccio, L.G., and Parente, M.J. (2019). External quality assurance program for neonatal screening in Latin America: Pitfalls and errors in the measurements and reporting results. J. Inborn Errors Metab. Screen., Available online: https:\/\/jiems-journal.org\/storagefiles\/2019.pdf."},{"key":"ref_1111","doi-asserted-by":"crossref","first-page":"e20210010","DOI":"10.1590\/2326-4594-jiems-2021-0010","article-title":"How long are residual newborn screening specimens useful for retesting when stored in suboptimal and uncontrolled conditions of temperature and humidity?","volume":"9","author":"Borrajo","year":"2021","journal-title":"J. Inborn Errors Metab. Screen."},{"key":"ref_1112","doi-asserted-by":"crossref","unstructured":"Borrajo, G.J.C. (2016). Newborn screening for phenylketonuria: Latin American consensus guidelines. J. Inborn Errors Metab. Screen., 4.","DOI":"10.1177\/2326409816682764"},{"key":"ref_1113","doi-asserted-by":"crossref","first-page":"101026","DOI":"10.1016\/j.ymgmr.2023.101026","article-title":"Adherence to PKU guidelines among patients with phenylketonuria: A cross-sectional national multicenter survey-based study in Argentina, Brazil, and Mexico","volume":"38","author":"Chiesa","year":"2023","journal-title":"Mol. Genet. Metab. Rep."},{"key":"ref_1114","doi-asserted-by":"crossref","unstructured":"Poloni, S., Dos Santos, B.B., Chiesa, A., Specola, N., Pereyra, M., Sabor\u00edo-Rocafort, M., Salazar, M.F., Leal-Witt, M.J., Castro, G., and Pe\u00f1aloza, F. (2021). Current practices and challenges in the diagnosis and management of PKU in Latin America: A multicenter survey. Nutrients, 13.","DOI":"10.3390\/nu13082566"},{"key":"ref_1115","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1186\/s13023-022-02450-2","article-title":"Burden of phenylketonuria in Latin American patients: A systematic review and meta-analysis of observational studies","volume":"17","author":"Pessoa","year":"2022","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_1116","doi-asserted-by":"crossref","first-page":"1131","DOI":"10.1002\/pbc.25450","article-title":"Sickle cell in Latin America and the United States","volume":"62","author":"Huttle","year":"2015","journal-title":"Pediatr. Blood Cancer"},{"key":"ref_1117","doi-asserted-by":"crossref","first-page":"791","DOI":"10.1016\/j.jcf.2016.05.007","article-title":"Cystic fibrosis in Latin America-improving the awareness","volume":"15","year":"2016","journal-title":"J. Cyst. Fibros."},{"key":"ref_1118","first-page":"581","article-title":"Inmunodeficiencia combinada severa: Es tiempo de su detecci\u00f3n precoz [Severe combined immunodeficiency: The time for newborn screening has come]","volume":"90","author":"Sotomayor","year":"2019","journal-title":"Rev. Chil. Pediatr."},{"key":"ref_1119","doi-asserted-by":"crossref","first-page":"897","DOI":"10.1016\/j.jaci.2019.08.002","article-title":"Latin American consensus on the supportive management of patients with severe combined immunodeficiency","volume":"144","author":"Bezrodnik","year":"2019","journal-title":"J. Allergy Clin. Immunol."},{"key":"ref_1120","doi-asserted-by":"crossref","unstructured":"Kubaski, F., Sousa, I., Amorim, T., Pereira, D., Trometer, J., Souza, A., Ranieri, E., Polo, G., Burlina, A., and Brusius-Facchin, A.C. (2020). Neonatal screening for MPS disorders in Latin America: A survey of pilot initiatives. Int. J. Neonatal Screen., 6.","DOI":"10.3390\/ijns6040090"},{"key":"ref_1121","doi-asserted-by":"crossref","first-page":"107654","DOI":"10.1016\/j.ymgme.2023.107654","article-title":"Pilot study of newborn screening for six lysosomal diseases in Brazil","volume":"140","author":"Kubaski","year":"2023","journal-title":"Mol. Genet. Metab."},{"key":"ref_1122","doi-asserted-by":"crossref","unstructured":"Colom\u00e9-Hidalgo, M., Campos, J.D., and de Miguel, \u00c1.G. (2021). Exploring wealth-related inequalities in maternal and child health coverage in Latin America and the Caribbean. BMC Public Health, 21.","DOI":"10.1186\/s12889-020-10127-3"},{"key":"ref_1123","doi-asserted-by":"crossref","unstructured":"Cabello, J.F., Novoa, F., Huff, H.V., and Colombo, M. (2021). Expanded newborn screening and genomic sequencing in Latin America and the resulting social justice and ethical considerations. Int. J. Neonatal Screen., 7.","DOI":"10.3390\/ijns7010006"},{"key":"ref_1124","first-page":"146","article-title":"Newborn screening in Latin America: A window on the evolution of health policy","volume":"6","author":"Brosco","year":"2022","journal-title":"OBM Genet."},{"key":"ref_1125","doi-asserted-by":"crossref","unstructured":"Sola, A., Rodr\u00edguez, S., Young, A., Lemus Varela, L., Villamayor, R.M., Cardetti, M., Pleitez Navarrete, J., Favareto, M.V., Lima, V., and Baquero, H. (2020). CCHD screening implementation efforts in Latin American countries by the Ibero American Society of Neonatology (SIBEN). Int. J. Neonatal Screen., 6.","DOI":"10.20944\/preprints202002.0356.v1"},{"key":"ref_1126","doi-asserted-by":"crossref","first-page":"348","DOI":"10.1053\/j.semperi.2019.05.007","article-title":"Retinopathy of prematurity prevention, screening and treatment programmes: Progress in South America","volume":"43","author":"Silva","year":"2019","journal-title":"Semin Perinatol."},{"key":"ref_1127","first-page":"145","article-title":"Overview of newborn hearing screening activities in Latin America","volume":"29","author":"Gaffney","year":"2011","journal-title":"Rev. Panam. Salud Publica"},{"key":"ref_1128","doi-asserted-by":"crossref","unstructured":"Neumann, K., Mathmann, P., Chadha, S., Euler, H.A., and White, K.R. (2022). Newborn hearing screening benefits children, but global disparities persist. J. Clin. Med., 11.","DOI":"10.3390\/jcm11010271"},{"key":"ref_1129","doi-asserted-by":"crossref","first-page":"851","DOI":"10.2105\/AJPH.2016.303078","article-title":"CAREST--Multilingual regional integration for health promotion and research on sickle cell disease and thalassemia","volume":"106","author":"Romana","year":"2016","journal-title":"Am. J. Public Health"},{"key":"ref_1130","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1186\/s12961-019-0484-4","article-title":"Embedding implementation research to enhance health policy and systems: A multi-country analysis from ten settings in Latin America and the Caribbean","volume":"17","author":"Langlois","year":"2019","journal-title":"Health Res. Policy Syst."},{"key":"ref_1131","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1007\/s12687-021-00515-6","article-title":"Clinical and community genetics services in the Dutch Caribbean","volume":"12","author":"Verberne","year":"2021","journal-title":"J. Community Genet."},{"key":"ref_1132","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1007\/s12687-014-0209-x","article-title":"Public health approach to birth defects: The Argentine experience","volume":"6","author":"Bidondo","year":"2015","journal-title":"J. Community Genet."},{"key":"ref_1133","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1002\/mgg3.455","article-title":"Genetics and genomic medicine in Argentina","volume":"6","author":"Vishnopolska","year":"2018","journal-title":"Mol. Genet. Genomic Med."},{"key":"ref_1134","doi-asserted-by":"crossref","first-page":"e00571","DOI":"10.1002\/mgg3.571","article-title":"Genetics and genomic medicine in Argentina","volume":"7","author":"Cotignola","year":"2019","journal-title":"Mol. Genet. Genomic Med."},{"key":"ref_1135","first-page":"48","article-title":"Pesquisa neonatal: Antecedentes, presente y perspectivas","volume":"XXIX","author":"Dratler","year":"2022","journal-title":"Med. Infant."},{"key":"ref_1136","unstructured":"Borrajo, G.J.C. (2024, February 03). Estado actual de la pesquisa neonatal en Argentina. Acta Bioqu\u00edm Cl\u00edn Latinoam. Acta de Congreso 2. 2022, p. 44. Available online: https:\/\/calilab.fba.org.ar\/wp-content\/uploads\/2022\/11\/Acta-Bioq-Clin-Lat-Actas-de-Congreso-2-Calilab-2022.pdf."},{"key":"ref_1137","unstructured":"(2024, February 03). Boletin Integrado de Vigilancia BIV 545\u2014SE 15. Informe Especial: Pesquisa Neonatal de Enfermedades Cong\u00e9nitas (Ley Nacional 26279). Direcci\u00f3n de Epidemiolog\u00eda. Ministerio de Salud Nacional. 2021, pp. 49\u201359. Available online: https:\/\/bancos.salud.gob.ar\/recurso\/boletin-integrado-de-vigilancia-n545-se15-2021."},{"key":"ref_1138","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1002\/ppul.25130","article-title":"Comparison between two newborn screening strategies for cystic fibrosis in Argentina: IRT\/IRT versus IRT\/PAP","volume":"56","author":"Teper","year":"2021","journal-title":"Pediatr. Pulmonol."},{"key":"ref_1139","unstructured":"Seoane, B., and Su\u00e1rez, S. (2022). Congenital adrenal hyperplasia, before and after neonatal screening. 13 years of experience in Santa Cruz, Bolivia. J. Inborn Errors Metab. Screen., Available online: https:\/\/www.jiems-journal.org\/storage\/files\/20220505102450_special-supplement-2022_compressed.pdf."},{"key":"ref_1140","unstructured":"Jove, A., Salvatierra, I., and Siacar, S. (2015). Congenital hypothyroidism. Progression of the neonatal screening program in the Department of La Paz, Bolivia. J. Inborn Errors Metab. Screen., 3, Available online: http:\/\/www.jiems-journal.org\/storage\/files\/20190513155803_2015.pdf."},{"key":"ref_1141","unstructured":"Cortez Copa, P., Andrade Cruz, N., Limachi Vazquez, R., Pardo Boyan, J., Pati\u00f1o Azuga, K., Bravo Villalta, H., and Larrandaburu, M. (2023, January 1\u20134). Newborn screening in Bolivia: A regional initiative 2017 to 2022. Program & Abstract Book. Proceedings of the International Conference on Birth Defects and Disabilities in the Developing World\u2014ICBD 2023, Santiago, Chile."},{"key":"ref_1142","unstructured":"Gov.Br\u2014Minist\u00e9rio da Sa\u00fade (2023, August 30). Programa Nacional da Triagem Neonatal, Available online: https:\/\/www.gov.br\/saude\/pt-br\/composicao\/saes\/sangue\/pntn."},{"key":"ref_1143","doi-asserted-by":"crossref","unstructured":"Kopacek, C., de Castro, S.M., Prado, M.J., da Silva, C.M., Beltr\u00e3o, L.A., and Spritzer, P.M. (2017). Neonatal screening for congenital adrenal hyperplasia in Southern Brazil: A population based study with 108,409 infants. BMC Pediatr., 17.","DOI":"10.1186\/s12887-016-0772-x"},{"key":"ref_1144","unstructured":"(2023, September 01). Jusbrasil. Legisla\u00e7\u00e3o\u2014Lei N\u00ba 14.154, de 26 de Maio de 2021. Law Creating a National Newborn Screening Program. Available online: https:\/\/www.jusbrasil.com.br\/legislacao\/1218254408\/lei-14154-21."},{"key":"ref_1145","doi-asserted-by":"crossref","first-page":"e230162","DOI":"10.1530\/EC-23-0162","article-title":"The impact of neonatal 17-hydroxyprogesterone cutoff determination in a public newborn screening program for congenital adrenal hyperplasia in Southern Brazil: 3 years\u2019 experience","volume":"12","author":"Castro","year":"2023","journal-title":"Endocr. Connect."},{"key":"ref_1146","doi-asserted-by":"crossref","first-page":"e20210002","DOI":"10.1590\/2326-4594-jiems-2021-0002","article-title":"Twenty years of neonatal screening for sickle cell disease in Brazil: The challenges of a continental country with high genetic heterogeneity","volume":"9","year":"2021","journal-title":"J. Inborn Errors Metab. Screen."},{"key":"ref_1147","doi-asserted-by":"crossref","unstructured":"Silva-Pinto, A.C., Alencar de Queiroz, M.C., Antoniazzo Zamaro, P.J., Arruda, M., and Pimentel Dos Santos, H. (2019). The neonatal screening program in Brazil, focus on sickle cell disease (SCD). Int. J. Neonatal Screen., 5.","DOI":"10.3390\/ijns5010011"},{"key":"ref_1148","doi-asserted-by":"crossref","first-page":"eAO6535","DOI":"10.31744\/einstein_journal\/2022AO6535","article-title":"Incidence of hemoglobinopathies and spatialization of newborns with sickle cell trait in Mato Grosso do Sul, Brazil","volume":"20","author":"Grilo","year":"2022","journal-title":"Einstein"},{"key":"ref_1149","doi-asserted-by":"crossref","first-page":"e00049719","DOI":"10.1590\/0102-311x00049719","article-title":"The first five-year evaluation of cystic fibrosis neonatal screening program in S\u00e3o Paulo State, Brazil","volume":"36","author":"Maciel","year":"2020","journal-title":"Cad. Saude Publica"},{"key":"ref_1150","doi-asserted-by":"crossref","first-page":"5204","DOI":"10.1080\/14767058.2021.1875443","article-title":"Analysis of national coverage of neonatal cystic fibrosis screening in Brazil from 2008 to 2017","volume":"35","author":"Sadigurschi","year":"2022","journal-title":"J. Matern. Fetal Neonatal Med."},{"key":"ref_1151","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1016\/j.jped.2022.04.002","article-title":"Five-year performance analysis of a cystic fibrosis newborn screening program in northeastern Brazil","volume":"99","author":"Godoy","year":"2023","journal-title":"J. Pediatr."},{"key":"ref_1152","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1590\/2359-3997000000189","article-title":"Evolution to permanent or transient conditions in children with positive neonatal TSH screening tests in Sergipe, Brazil","volume":"60","author":"Matos","year":"2016","journal-title":"Arch. Endocrinol. Metab."},{"key":"ref_1153","first-page":"189","article-title":"Predictive factors for the diagnosis of permanent congenital hypothyroidism and its temporal changes in Sergipe, Brazil\u2014A real-life retrospective study","volume":"67","author":"Ramalho","year":"2023","journal-title":"Arch. Endocrinol. Metab."},{"key":"ref_1154","doi-asserted-by":"crossref","first-page":"1449","DOI":"10.1515\/jpem-2020-0285","article-title":"Pubertal development and adult height in patients with congenital hypothyroidism detected by neonatal screening in southern Brazil","volume":"33","author":"Carvalho","year":"2020","journal-title":"J. Pediatr. Endocrinol. Metab."},{"key":"ref_1155","doi-asserted-by":"crossref","first-page":"100624","DOI":"10.1016\/j.ymgmr.2020.100624","article-title":"Unmet needs in PKU and the disease impact on the day-to-day lives in Brazil: Results from a survey with 228 patients and their caregivers","volume":"24","author":"Martins","year":"2020","journal-title":"Mol. Genet. Metab. Rep."},{"key":"ref_1156","doi-asserted-by":"crossref","unstructured":"Garcia, D.F., Camelo, J.S., Molfetta, G.A., Turcato, M., Souza, C.F., Porta, G., Steiner, C.E., and Silva, W.A. (2016). Clinical profile and molecular characterization of galactosemia in Brazil: Identification of seven novel mutations. BMC Med. Genet., 17.","DOI":"10.1186\/s12881-016-0300-8"},{"key":"ref_1157","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1016\/j.jped.2014.08.010","article-title":"Maple syrup urine disease in Brazil: A panorama of the last two decades","volume":"91","author":"Herber","year":"2015","journal-title":"J. Pediatr."},{"key":"ref_1158","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1177\/0969141319892298","article-title":"Frequency of biotinidase gene variants and incidence of biotinidase deficiency in the newborn screening program in Minas Gerais, Brazil","volume":"27","author":"Carvalho","year":"2020","journal-title":"J. Med. Screen."},{"key":"ref_1159","doi-asserted-by":"crossref","first-page":"978","DOI":"10.1002\/ajmg.a.61137","article-title":"Novel mutations causing biotinidase deficiency in individuals identified by the newborn screening program in Minas Gerais, Brazil","volume":"179","author":"Carvalho","year":"2019","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_1160","doi-asserted-by":"crossref","first-page":"659492","DOI":"10.3389\/fped.2021.659492","article-title":"The cost-effectiveness of congenital adrenal hyperplasia newborn screening in Brazil: A comparison between screened and unscreened cohorts","volume":"9","author":"Haddad","year":"2021","journal-title":"Front. Pediatr."},{"key":"ref_1161","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1016\/j.jped.2019.02.008","article-title":"Neonatal screening tests in Brazil: Prevalence rates and regional and socioeconomic inequalities","volume":"96","author":"Mallmann","year":"2020","journal-title":"J. Pediatr."},{"key":"ref_1162","doi-asserted-by":"crossref","first-page":"659","DOI":"10.22161\/ijaers.6.5.83","article-title":"Incidence of congenital toxoplasmosis in newborn infant in the Western Amazon, Brazil","volume":"6","author":"Serruta","year":"2019","journal-title":"Int. J. Adv. Eng. Res. Sci."},{"key":"ref_1163","doi-asserted-by":"crossref","first-page":"374","DOI":"10.1016\/j.jped.2015.10.006","article-title":"Neonatal screening for severe combined immunodeficiency in Brazil","volume":"92","author":"Kanegae","year":"2016","journal-title":"J. Pediatr."},{"key":"ref_1164","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1590\/1984-0462\/;2018;36;4;00020","article-title":"In time: The value and global implications of newborn screening for severe combined immunodeficiency","volume":"36","author":"Meehan","year":"2018","journal-title":"Rev. Paul. Pediatr."},{"key":"ref_1165","doi-asserted-by":"crossref","first-page":"1171","DOI":"10.1007\/s10875-022-01275-9","article-title":"SCID and other inborn errors of immunity with low TRECs\u2014The Brazilian Experience","volume":"42","author":"Barreiros","year":"2022","journal-title":"J. Clin. Immunol."},{"key":"ref_1166","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1016\/j.ymgmr.2017.06.006","article-title":"Investigation of newborns with abnormal results in a newborn screening program for four lysosomal storage diseases in Brazil","volume":"12","author":"Bravo","year":"2017","journal-title":"Mol. Genet. Metab. Rep."},{"key":"ref_1167","doi-asserted-by":"crossref","first-page":"414","DOI":"10.1590\/1678-4685-gmb-2017-0227","article-title":"Neonatal screening for four lysosomal storage diseases with a digital microfluidics platform: Initial results in Brazil","volume":"41","author":"Schulte","year":"2018","journal-title":"Genet. Mol. Biol."},{"key":"ref_1168","doi-asserted-by":"crossref","unstructured":"Bender, F., Burin, M.G., Tirelli, K.M., Medeiros, F., Bitencourt, F.H., Civallero, G., Kubaski, F., Bravo, H., Daher, A., and Carnier, V. (2020). Newborn screening for lysosomal disorders in Brazil: A pilot study using customized fluorimetric assays. Genet. Mol. Biol., 43.","DOI":"10.1590\/1678-4685-gmb-2018-0334"},{"key":"ref_1169","doi-asserted-by":"crossref","unstructured":"Romanelli Tavares, V.L., Monfardini, F., Louren\u00e7o, N.C.V., da Rocha, K.M., Weinmann, K., Pavanello, R., and Zatz, M. (2021). Newborn Screening for 5q spinal muscular atrophy: Comparisons between real-time PCR methodologies and cost estimations for future implementation programs. Int. J. Neonatal Screen., 7.","DOI":"10.3390\/ijns7030053"},{"key":"ref_1170","doi-asserted-by":"crossref","first-page":"3026","DOI":"10.1038\/s41598-020-69750-0","article-title":"A newborn screening pilot study using methylation-sensitive high resolution melting on dried blood spots to detect Prader-Willi and Angelman syndromes","volume":"10","author":"Ferreira","year":"2020","journal-title":"Sci. Rep."},{"key":"ref_1171","doi-asserted-by":"crossref","first-page":"e20190259","DOI":"10.1590\/2317-1782\/20202019259","article-title":"Newborn hearing screening: Association between coverage, and the availability of speech therapists and equipment in Brazil","volume":"33","author":"Oliveira","year":"2021","journal-title":"Codas"},{"key":"ref_1172","doi-asserted-by":"crossref","first-page":"e20200331","DOI":"10.1590\/2317-1782\/20212020331","article-title":"Neonatal hearing screening: Protocols, obstacles and perspectives of speech therapists in Brazil\u201410 years of Brazilian Federal Law 12,303\/2010","volume":"34","author":"Vernier","year":"2022","journal-title":"Codas"},{"key":"ref_1173","doi-asserted-by":"crossref","first-page":"44","DOI":"10.11606\/s1518-8787.2020054001643","article-title":"Evaluation of newborn hearing screening program","volume":"54","author":"Marinho","year":"2020","journal-title":"Rev. Sa\u00fade P\u00fablica"},{"key":"ref_1174","doi-asserted-by":"crossref","first-page":"1379","DOI":"10.1093\/cid\/ciz413","article-title":"Contribution of congenital cytomegalovirus infection to permanent hearing loss in a highly seropositive population: The Brazilian cytomegalovirus hearing and maternal secondary infection study","volume":"70","author":"Isaac","year":"2020","journal-title":"Clin. Infect. Dis."},{"key":"ref_1175","first-page":"17","article-title":"Expanded newborn screening in Chile (26 conditions). Results of a pilot program","volume":"Special Suppl. SLEIMPN 2019","author":"Valiente","year":"2019","journal-title":"J. Inborn Errors Metab. Screen."},{"key":"ref_1176","doi-asserted-by":"crossref","first-page":"908","DOI":"10.32641\/rchped.v91i6.2580","article-title":"Severe combined immunodeficiency, report of Chilean patients diagnosed during the 1999\u20132020 period","volume":"91","author":"Rojas","year":"2020","journal-title":"Rev. Chil. Pediatr."},{"key":"ref_1177","first-page":"45","article-title":"Congenital cytomegalovirus infection screening in high risk newborn","volume":"38","author":"Peret","year":"2021","journal-title":"Rev. Chilena Infectol."},{"key":"ref_1178","first-page":"1579","article-title":"Neurodevelopmental assessment of patients with congenital hypothyroidism","volume":"145","author":"Bedregal","year":"2017","journal-title":"Rev. Med. Chil."},{"key":"ref_1179","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1159\/000522257","article-title":"Cognitive outcomes in congenital hypothyroidism: Impact of socioeconomic status\u2014A case-control Study","volume":"95","author":"Grob","year":"2022","journal-title":"Horm. Res. Paediatr."},{"key":"ref_1180","doi-asserted-by":"crossref","first-page":"e20210003","DOI":"10.1590\/2326-4594-jiems-2021-0003","article-title":"Update on dietary compliance, nutritional status, and neuropsychological functioning in the Chilean phenylketonuria cohort","volume":"9","author":"Salazar","year":"2021","journal-title":"J. Inborn Errors Metab. Screen."},{"key":"ref_1181","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1007\/8904_2017_85","article-title":"Characterization of phenyalanine hydroxylase gene mutations in Chilean PKU patients","volume":"42","author":"Hamilton","year":"2018","journal-title":"JIMD Rep."},{"key":"ref_1182","doi-asserted-by":"crossref","first-page":"e1616","DOI":"10.1002\/mgg3.1616","article-title":"Molecular basis of various forms of maple syrup urine disease in Chilean patients","volume":"9","author":"Schwartz","year":"2021","journal-title":"Mol. Genet. Genom. Med."},{"key":"ref_1183","first-page":"21","article-title":"Importancia de una propuesta para la implementaci\u00f3n de un programa de tamizaje neonatal expandido en Colombia","volume":"27","year":"2019","journal-title":"Rev. Med."},{"key":"ref_1184","unstructured":"Ministerio de Salud y Protecci\u00f3n Social (2023, January 21). Neonatal Screening Is a Transcendental Measure of Equity in Colombia: President Duque. Press Release, Bogot\u00e1 DC, Available online: https:\/\/www.minsalud.gov.co\/Paginas\/Neonatal-Screening-is-a-Transcendental-Measure-of-Equity-in-Colombia-President-Duque.aspx."},{"key":"ref_1185","unstructured":"Pe\u00f1aloza, M. (2024, February 03). What Is Screening and Why Does It Benefit Babies? LatinAmerican Post. Available online: https:\/\/latinamericanpost.com\/28050-what-is-screening-and-why-does-it-benefit-babies."},{"key":"ref_1186","doi-asserted-by":"crossref","first-page":"113","DOI":"10.25100\/cm.v48i3.2180","article-title":"Reference values of amino acids, acylcarnitines and succinylacetone by tandem mass spectrometry for use in newborn screening in southwest Colombia","volume":"48","author":"Valencia","year":"2017","journal-title":"Colomb. Medica"},{"key":"ref_1187","doi-asserted-by":"crossref","first-page":"e20210012","DOI":"10.1590\/2326-4594-jiems-2021-0012","article-title":"Amino acids and acylcarnitines reference values for neonatal screening of inborn errors of metabolism in Colombia by tandem mass spectrometry","volume":"9","author":"Robayo","year":"2021","journal-title":"J. Inborn Errors Metab. Screen."},{"key":"ref_1188","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1002\/jmd2.12313","article-title":"Twenty years of Colombian experience with enzymatic screening in patients with features of mucopolysaccharidosis","volume":"63","author":"Ayala","year":"2022","journal-title":"JIMD Rep."},{"key":"ref_1189","doi-asserted-by":"crossref","first-page":"e03635","DOI":"10.1016\/j.heliyon.2020.e03635","article-title":"A perspective on research, diagnosis, and management of lysosomal storage disorders in Colombia","volume":"6","author":"Suarez","year":"2020","journal-title":"Heliyon"},{"key":"ref_1190","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1186\/s12962-019-0179-2","article-title":"Cost-effectiveness analysis of newborn pulse oximetry screening to detect critical congenital heart disease in Colombia","volume":"17","year":"2019","journal-title":"Cost Eff. Resour. Alloc."},{"key":"ref_1191","unstructured":"Nicklaus Children\u2019s Hospital (2023, January 21). Global Health Initiative for the Early Detection and Treatment of Congenital Heart Disease in Newborns. Available online: https:\/\/www.nicklauschildrens.org\/programs\/global-health-initiative."},{"key":"ref_1192","first-page":"451","article-title":"Evolution and innovations of the national neonatal and high risk screening program in Costa Rica","volume":"52","author":"Trejos","year":"2004","journal-title":"Rev. Biol. Trop."},{"key":"ref_1193","unstructured":"The Costa Rica News (2023, January 22). Free Costa Rican Neonatal \u2018Heel Test\u2019 Diagnoses and Allows Treatment for 29 Diseases. Available online: https:\/\/thecostaricanews.com\/free-costa-rican-neonatal-heel-test-diagnoses-and-allows-treatment-for-29-diseases\/."},{"key":"ref_1194","doi-asserted-by":"crossref","first-page":"A69","DOI":"10.1210\/jendso\/bvaa046.137","article-title":"Costa Rican national primary congenital hypothyroidism screening program evaluation. Retrospective cohort trial between 2015 and 2017","volume":"4","author":"Cob","year":"2020","journal-title":"J. Endocr. Soc."},{"key":"ref_1195","doi-asserted-by":"crossref","first-page":"100728","DOI":"10.1016\/j.ymgmr.2021.100728","article-title":"CYP21A2 mutations in pediatric patients with congenital adrenal hyperplasia in Costa Rica","volume":"27","author":"Alvarado","year":"2021","journal-title":"Mol. Genet. Metab. Rep."},{"key":"ref_1196","first-page":"5","article-title":"National alliance for Wilson\u2019s disease: Health policy in Costa Rica","volume":"2","year":"2012","journal-title":"Hepatol. Med. Policy"},{"key":"ref_1197","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1002\/jmd2.12098","article-title":"Wilson disease in Costa Rica: Pediatric phenotype and genotype characterization","volume":"52","year":"2020","journal-title":"JIMD Rep."},{"key":"ref_1198","unstructured":"Mu\u00f1oz, I., Obando, S.O., Jim\u00e9nez, M., and Sabor\u00edo, M. (2022). Pilot plan for improvement of newborn screening samples transportation in Costa Rica. J. Inborn Errors Metab. Screen., Available online: https:\/\/www.jiems-journal.org\/storage\/files\/20220505102450_special-supplement-2022_compressed.pdf."},{"key":"ref_1199","unstructured":"Alvarado, D., Guti\u00e9rrez, J.D., Solano, M., Reuben, A., Camacho, N., Jim\u00e9nez, M., and Sabor\u00edo, M. (2022). Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) in Costa Rica: Molecular characterization of 38 patients identified through the national newborn screening program. J. Inborn Errors Metab. Screen., Available online: https:\/\/www.jiems-journal.org\/storage\/files\/20220505102450_special-supplement-2022_compressed.pdf."},{"key":"ref_1200","unstructured":"S\u00e1nchez-Guti\u00e9rrez, A., Arteaga-Year, A.L., Ozunas-Fern\u00e1ndez, N., Fr\u00f3meta-Su\u00e1rez, A., Castells-Mart\u00ednez, E.M., Del R\u00edo-Fabr\u00e9, L., Espinosa-Morales, M., Mart\u00edn-Gonz\u00e1lez, O., P\u00e9rez-Molina, H.L., and Rego-Diaz, A. (2019). Results of the neonatal screening program in Cuba: 33 years of experience. J. Inborn Errors Metab. Screen., Available online: https:\/\/jiems-journal.org\/storagefiles\/2019.pdf."},{"key":"ref_1201","doi-asserted-by":"crossref","unstructured":"Gonz\u00e1lez Reyes, E.C., Castells, E.M., Fr\u00f3meta, A., Arteaga, A.L., Del Rio, L., Tejeda, Y., Perez, L.T., Segura, M.T., Almenares, P., and Perea, Y. (2016). SUMA technology and newborn screening tests for inherited metabolic diseases in Cuba: An overview of the first 30 years. J. Inborn Errors Metabol. Screen., 4.","DOI":"10.1177\/2326409816661356"},{"key":"ref_1202","unstructured":"P\u00e9rez-Molina, H.L., Palenzuela, A., Carlos, N.M., Rego-Diaz, A., Turro, G.A., Bar\u00f3, G., Rodr\u00edguez, R., and Rojas, M.M. (2019). External quality assessment of neonatal screening with ultramicroanalytic system in Latin America. General evaluation of more than two decades of work. J. Inborn Errors Metab. Screen., Available online: https:\/\/jiems-journal.org\/storagefiles\/2019.pdf."},{"key":"ref_1203","doi-asserted-by":"crossref","unstructured":"Morej\u00f3n Garc\u00eda, G., Garc\u00eda de la Rosa, I., Feal Carballo, S., Castells Mart\u00ednez, E.M., Stable Vernier, I.C., Quintana Guerra, J.M., Hern\u00e1ndez P\u00e9rez, L., Lafita Delfino, Y., P\u00e9rez Mor\u00e1s, P.L., and Pupo Infante, M. (2020). Generation and characterization of murine monoclonal antibodies against immunoreactive trypsinogen for newborn screening of cystic fibrosis. Anal. Biochem., 591.","DOI":"10.1016\/j.ab.2019.113569"},{"key":"ref_1204","doi-asserted-by":"crossref","first-page":"1857","DOI":"10.1515\/cclm-2020-0037","article-title":"Pilot study for cystic fibrosis neonatal screening: The Cuban experience","volume":"58","author":"Castells","year":"2020","journal-title":"Clin. Chem Lab Med."},{"key":"ref_1205","doi-asserted-by":"crossref","first-page":"1034","DOI":"10.1007\/s12010-018-2785-4","article-title":"An enzyme immunoassay for determining immunoreactive trypsinogen (IRT) in dried blood spots on filter paper using an ultra-microanalytical system","volume":"186","author":"Tejeda","year":"2018","journal-title":"Appl. Biochem. Biotechnol."},{"key":"ref_1206","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1016\/j.cca.2018.07.019","article-title":"Generation of monoclonal antibodies against 17\u03b1-hydroxyprogesterone for newborn screening of congenital adrenal hyperplasia","volume":"485","year":"2018","journal-title":"Clin. Chim Acta"},{"key":"ref_1207","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1080\/15321819.2017.1392321","article-title":"Evaluation of UMELISA\u00ae T4 NEONATAL and UMELISA\u00ae T4 using polystyrene plates coated with anti-thyroxine (T4) monoclonal antibodies","volume":"39","author":"Castells","year":"2018","journal-title":"J. Immunoass. Immunochem."},{"key":"ref_1208","doi-asserted-by":"crossref","first-page":"350","DOI":"10.1080\/15321819.2019.1605375","article-title":"Generation and characterization of monoclonal antibodies against thyroid-stimulating hormone for newborn screening of congenital hypothyroidism","volume":"40","year":"2019","journal-title":"J. Immunoass. Immunochem."},{"key":"ref_1209","first-page":"137","article-title":"Universal newborn hearing screening in the neonatal population. Cuba, 2018","volume":"19","year":"2020","journal-title":"Horiz. Sanit."},{"key":"ref_1210","unstructured":"Del Sol Gonzalez, Y., and Rodriguez, M.M. (2023, January 23). Infantix: A Cuban Screening System, for Our Children. Granma, Havana. Available online: https:\/\/en.granma.cu\/cuba\/2021-06-25\/infantix-a-cuban-screening-system-for-our-children."},{"key":"ref_1211","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1002\/mgg3.224","article-title":"Medical genetics and genomic medicine in the Dominican Republic: Challenges and opportunities","volume":"4","year":"2016","journal-title":"Mol. Genet. Genomic Med."},{"key":"ref_1212","doi-asserted-by":"crossref","unstructured":"Olney, R.S., Bonham, J.R., Schielen, P.C.J.I., Slavin, D., and Ojodu, J. (2023). 2023 APHL\/ISNS Newborn Screening Symposium. Int. J. Neonatal Screen., 9.","DOI":"10.3390\/ijns9040054"},{"key":"ref_1213","unstructured":"Ministerio de Salud P\u00fablica de la Rep\u00fablica del Ecuador (2023, September 01). Reglamento para Establecer el Procedimiento para el Desarrollo de las Pruebas de Tamizaje Metab\u00f3lico Neonatal en el Ecuador. Available online: https:\/\/www.salud.gob.ec\/wp-content\/uploads\/2016\/09\/AM-5104-REGLAMENTO-TAMIZAJE.pdf."},{"key":"ref_1214","doi-asserted-by":"crossref","first-page":"e20200016","DOI":"10.1590\/2326-4594-jiems-2020-0016","article-title":"Spatial Distribution of congenital disorders diagnosed by the newborn screening program in Ecuador","volume":"9","author":"Cruz","year":"2021","journal-title":"J. Inborn Errors Metab. Screen."},{"key":"ref_1215","unstructured":"Ministerio de Salud de El Salvador (2023, September 01). Lineamientos T\u00e9cnicos de Tamizaje Neonatal para Hipotiroidismo Cong\u00e9nito. Available online: http:\/\/asp.salud.gob.sv\/regulacion\/pdf\/lineamientos\/lineamientos_tamizaje_neonatal.pdf."},{"key":"ref_1216","unstructured":"Gobierno de El Salvador\u2014Instituto Salvadore\u00f1o del Seguro Social (2023, September 01). ISSS Realiza Tamizajes Neonatales para Detectar Enfermedades Cong\u00e9nitas en los Reci\u00e9n Nacidos. Available online: https:\/\/www.isss.gob.sv\/isss-capacita-a-personal-administrativo-en-gestion-de-cobros\/#:~:text=El%20Instituto%20Salvadore%C3%B1o%20del%20Seguro,el%20auditivo%20y%20el%20card%C3%ADaco."},{"key":"ref_1217","unstructured":"Salerno, R., and Schmidt, J. (2024, February 03). Lessons Learned from IAEA Technical Cooperation Programme: Successes and Challenge. Available online: https:\/\/www.academia.edu\/download\/33586729\/PublicationRESEARCH_POSITIVO.pdf."},{"key":"ref_1218","first-page":"12","article-title":"Pilot program of the neonatal screening program in Guatemala","volume":"5","author":"Soto","year":"2017","journal-title":"J. Inborn Errors Metab. Screen."},{"key":"ref_1219","unstructured":"Lemus, G.A., Alban\u00e9s, E.J., and Tzor\u00edn, P.A. (2024, February 03). Newborn screening in Guatemala: New strategies in public health. Available online: https:\/\/jiems-journal.org\/storagefiles\/2019.pdf."},{"key":"ref_1220","unstructured":"Alban\u00e9s, E.J., Jacinto, A.C., Chiroy, A.S., Gait\u00e1n, I.C., and Tzor\u00edn, P.A. (2022). Preliminary incidence of structural hemoglobinopathies in Guatemala. J. Inborn Errors Metab. Screen., Available online: https:\/\/jiems-journal.org\/storage\/files\/20220505102450_special-supplement-2022_compressed.pdf."},{"key":"ref_1221","unstructured":"Tzor\u00edn, P.A., Morales, L.A., Lemus, G.A., and Alban\u00e9s, E.J. (2022). Proposal of informative material for the newborn screening program in Guatemala. J. Inborn Errors Metab. Screen., Available online: https:\/\/jiems-journal.org\/storage\/files\/20220505102450_special-supplement-2022_compressed.pdf."},{"key":"ref_1222","doi-asserted-by":"crossref","first-page":"827","DOI":"10.1002\/ajh.23510","article-title":"Prevalence of sickle cell disease, hemoglobin S, and hemoglobin C among Haitian newborns","volume":"88","author":"Rotz","year":"2013","journal-title":"Am. J. Hematol."},{"key":"ref_1223","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1182\/bloodadvances.2018GS111997","article-title":"Capacity building and networking to make newborn screening for sickle cell disease a reality in Hait\u00ed","volume":"2","author":"Archer","year":"2018","journal-title":"Blood Adv."},{"key":"ref_1224","doi-asserted-by":"crossref","first-page":"e20184105","DOI":"10.1542\/peds.2018-4105","article-title":"Newborn screening for sickle cell disease using point-of-care testing in low-income setting","volume":"144","author":"Alvarez","year":"2019","journal-title":"Pediatrics"},{"key":"ref_1225","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1182\/bloodadvances.2023010104","article-title":"Implementation of hospital-based sickle cell newborn screening and follow-up programs in Hait\u00ed","volume":"8","author":"Alvarez","year":"2024","journal-title":"Blood Adv."},{"key":"ref_1226","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1007\/s12687-021-00506-7","article-title":"Neonatal screening program for five conditions in Honduras","volume":"12","author":"Buckley","year":"2021","journal-title":"J. Community Genet."},{"key":"ref_1227","first-page":"1","article-title":"Mexico: Health system review","volume":"22","author":"Hurtado","year":"2020","journal-title":"Health Syst Transit."},{"key":"ref_1228","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1080\/2157930X.2019.1567876","article-title":"Barriers and facilitators of knowledge use in the health care system in Mexico: The newborn screening programme","volume":"9","author":"Vargas","year":"2019","journal-title":"Innov. Dev."},{"key":"ref_1229","first-page":"431","article-title":"Institutional variability of neonatal screening in Mexico","volume":"66","year":"2009","journal-title":"Bol. Med. Hosp. Infant. Mex."},{"key":"ref_1230","doi-asserted-by":"crossref","unstructured":"Ibarra-Gonz\u00e1lez, I., Fern\u00e1ndez-Lainez, C., Vela-Amieva, M., Guill\u00e9n-L\u00f3pez, S., Belmont-Mart\u00ednez, L., L\u00f3pez-Mej\u00eda, L., Carrillo-Nieto, R.I., and Guill\u00e9n-Zaragoza, N.A. (2023). A Review of Disparities and Unmet Newborn Screening Needs over 33 Years in a Cohort of Mexican Patients with Inborn Errors of Intermediary Metabolism. Int. J. Neonatal Screen., 9.","DOI":"10.3390\/ijns9040059"},{"key":"ref_1231","first-page":"1","article-title":"Incidence of inborn errors of metabolism by expanded newborn screening in a Mexican hospital","volume":"4","author":"Zepeda","year":"2016","journal-title":"J. Inborn Errors Metab. Screen."},{"key":"ref_1232","unstructured":"Vela-Amieva, M. Personal communication."},{"key":"ref_1233","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1016\/j.ymgme.2017.03.001","article-title":"Newborn screening for six lysosomal storage disorders in a cohort of Mexican patients: Three-year findings from a screening program in a closed Mexican health system","volume":"121","year":"2017","journal-title":"Mol. Genet. Metab."},{"key":"ref_1234","first-page":"e25","article-title":"Incidence of inborn errors of metabolism and other diseases detected in a newborn screening program within a group of Mexican private hospitals","volume":"78","year":"2020","journal-title":"Acta Pediatr. Esp."},{"key":"ref_1235","unstructured":"De-la-Torre-Garc\u00eda, O., Mar-Aldana, R., Santiago-P\u00e9rez, A.L., Salgado-Sangri, R.E., Fern\u00e1ndez-Luna, C.P., Herrera-P\u00e9rez, L.A., Moreno-Graciano, C.M., Quintero-Rodr\u00edguez, G.I., Burgos-Lizama, J.Y., and Carde\u00f1a-Carballo, Z.M. (2022). Detection of newborns in the neonatal screening program of the health services of the Mexican Navy: An experience of 9 years. J. Inborn Errors Metab. Screen., Available online: https:\/\/jiems-journal.org\/storage\/files\/20220505102450_special-supplement-2022_compressed.pdf."},{"key":"ref_1236","unstructured":"Garc\u00eda-Mart\u00ednez, E., Ter\u00e1n-Montiel, L., Rodr\u00edguez-Bazaldua, J.A., Maldonado-Sol\u00eds, F.A., Moreno-Graciano, C.M., Herrera-P\u00e9rez, L.A., Quintero-Rodr\u00edguez, G.I., Arias-Vidal, C.E., Hern\u00e1ndez-P\u00e9rez, H., and Rosique-Hip\u00f3lito, N.T. (2022). Expanded neonatal screening program in the Mexican Army health services. An experience of 8 years. J. Inborn Errors Metab. Screen., Available online: https:\/\/jiems-journal.org\/storage\/files\/20220505102450_special-supplement-2022_compressed.pdf."},{"key":"ref_1237","first-page":"S57","article-title":"Advances and achievements of the newborn screening program (2012\u20132018)","volume":"39","year":"2018","journal-title":"Acta Pediatr. Mex."},{"key":"ref_1238","first-page":"S1","article-title":"Challenges of the newborn screening program at the Ministry of Health in Mexico","volume":"39","year":"2018","journal-title":"Acta Pediatr. Mex."},{"key":"ref_1239","doi-asserted-by":"crossref","first-page":"203","DOI":"10.3233\/NPM-1831","article-title":"Glucose-6-phosphate dehydrogenase deficiency incidence in a Hispanic population","volume":"12","year":"2019","journal-title":"J. Neonatal Perinat. Med."},{"key":"ref_1240","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1186\/s13023-021-01693-9","article-title":"Genetic spectrum and clinical early natural history of glucose-6-phosphate dehydrogenase deficiency in Mexican children detected through newborn screening","volume":"16","year":"2021","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_1241","first-page":"64","article-title":"Functional characterization of the p.(Gln195His) or Tainan and novel p.(Ser184Cys) or Toluca glucose-6-phosphate dehydrogenase (G6PD) gene natural variants identified through Mexican newborn screening for glucose-6-phosphate dehydrogenase deficiency","volume":"109\u2013110","year":"2022","journal-title":"Clin. Biochem."},{"key":"ref_1242","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1177\/0969141317722808","article-title":"Newborn cystic fibrosis screening in southeastern Mexico: Birth prevalence and novel CFTR gene variants","volume":"25","year":"2018","journal-title":"J. Med. Screen."},{"key":"ref_1243","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1007\/978-3-319-55780-9_14","article-title":"Hepatorenal tyrosinemia in Mexico: A call to action","volume":"959","year":"2017","journal-title":"Adv. Exp. Med. Biol."},{"key":"ref_1244","first-page":"1","article-title":"The incidence of transient neonatal tyrosinemia within a Mexican population","volume":"5","year":"2017","journal-title":"J. Inborn Errors Metab. Screen."},{"key":"ref_1245","first-page":"501216","article-title":"Prevalence of toxoplasma infection in Mexican newborns and children: A systematic review from 1954 to 2009","volume":"2012","author":"Roman","year":"2012","journal-title":"ISRN Pediatr."},{"key":"ref_1246","doi-asserted-by":"crossref","first-page":"110412","DOI":"10.1016\/j.ijporl.2020.110412","article-title":"Results of the universal neonatal hearing screening in a tertiary care hospital in Mexico City","volume":"139","year":"2020","journal-title":"Int. J. Pediatr. Otorhinolaryngol."},{"key":"ref_1247","doi-asserted-by":"crossref","first-page":"952","DOI":"10.1017\/S1047951122001974","article-title":"Critical CHD screening programme: A 3-year multicentre experience in Mexico","volume":"33","year":"2023","journal-title":"Cardiol. Young."},{"key":"ref_1248","doi-asserted-by":"crossref","first-page":"3","DOI":"10.51362\/neonatology.today\/2020111511310","article-title":"The predictive power of concurrent pulse oximetry readings in the detection of congenital heart defects in newborns of The Hospital of Specialties of Children and Women in Queretaro, Mexico","volume":"15","author":"Orozco","year":"2020","journal-title":"Neonatol. Today"},{"key":"ref_1249","first-page":"65","article-title":"Neonatal cardiac screening in Mexico, a tool for critical heart disease early diagnosis","volume":"158","year":"2022","journal-title":"Gac. Med. Mex."},{"key":"ref_1250","doi-asserted-by":"crossref","unstructured":"Comit\u00e9 MTNC (2022). Introduction, creation and development of the Mexican Committee for Neonatal Cardiac Screening. Rev. Mex. Pediatr, 89, s3\u2013s4.","DOI":"10.35366\/108176"},{"key":"ref_1251","unstructured":"Lara Toru\u00f1o, L. Personal communication."},{"key":"ref_1252","first-page":"e20190003","article-title":"Neonatal Screening for Congenital Hypothyroidism in Nicaragua: Audit of a Cord-blood Thyrotropin-based Program (2005\u20132015)","volume":"7","author":"Lara","year":"2019","journal-title":"J. Inborn Errors Metab. Screen."},{"key":"ref_1253","first-page":"91","article-title":"Implementation of the Newborn Screening Program at the Nicaraguan Social Security Institute: First Year Results","volume":"3","year":"2015","journal-title":"J. Inborn Errors Metab. Screen."},{"key":"ref_1254","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1182\/bloodadvances.2018GS110337","article-title":"Establishment of a specialized laboratory for hemoglobin analysis in Nicaragua","volume":"2","author":"Puller","year":"2018","journal-title":"Blood Adv."},{"key":"ref_1255","doi-asserted-by":"crossref","first-page":"877","DOI":"10.1177\/0194599817696306","article-title":"Otoacoustic emissions in rural Nicaragua: Cost analysis and implications for newborn hearing screening","volume":"156","author":"Wong","year":"2017","journal-title":"Otolaryngol. Head Neck Surg."},{"key":"ref_1256","unstructured":"Stein-Meyers, A. (2023, January 31). Bringing Newborn Hearing Screening to Nicaragua. Center for Hearing and Communication. Available online: https:\/\/www.chchearing.org\/post\/bringing-newborn-hearing-screening-to-nicaragua."},{"key":"ref_1257","unstructured":"Cossio, G. (2023, September 01). Informe Programa Nacional de Tamizaje Neonatal 2014. (Centro de Referencia). Available online: https:\/\/www.minsa.gob.pa\/sites\/default\/files\/programas\/informe_programa_nacional_de_tamizaje_neonatal_ano_2014.pdf."},{"key":"ref_1258","first-page":"15","article-title":"Estudio preliminar de incidencia de hemoglobinopat\u00edas, en neonatos tamizados en el Hospital del Ni\u00f1o de Panam\u00e1. Agosto-diciembre 2009","volume":"40","author":"Cossio","year":"2011","journal-title":"Pedi\u00e1tr. Panam\u00e1"},{"key":"ref_1259","first-page":"94","article-title":"Panam\u00e1 en cifras: Tamizaje neonatal metab\u00f3lico 2013 al 2018","volume":"51","author":"Cepeda","year":"2022","journal-title":"Pedi\u00e1tr. Panam\u00e1"},{"key":"ref_1260","unstructured":"Gaceta Oficial Digital (2023, September 01). Gaceta Oficial Digital. Rep\u00fablica de Panam\u00e1\u2014Gobierno Nacional. Ley 329\/2022 Tamizaje Neonatal. A\u00f1o CXXI. N\u00b0 29643. Available online: https:\/\/www.gacetaoficial.gob.pa\/pdfTemp\/29643\/GacetaNo_29643_20221013.pdf."},{"key":"ref_1261","unstructured":"Ascurra, M. (2023, January 1\u20134). Challenges in the design and implementation of the neonatal screening program\u2014Paraguay. Program & Abstract Book. Proceedings of the International Conference on Birth Defects and Disabilities in the Developing World\u2014ICBD 2023, Santiago, Chile."},{"key":"ref_1262","doi-asserted-by":"crossref","first-page":"e20210006","DOI":"10.1590\/2326-4594-jiems-2021-0006","article-title":"Consolidation of the neonatal screening program as a public health program in Paraguay","volume":"9","author":"Ascurra","year":"2021","journal-title":"J. Inborn Errors Metab. Screen."},{"key":"ref_1263","first-page":"724","article-title":"Newborn screening in Peru: Where are we going?","volume":"30","author":"Obando","year":"2013","journal-title":"Rev. Peru Med. Exp. Salud Publica"},{"key":"ref_1264","doi-asserted-by":"crossref","first-page":"579","DOI":"10.17843\/rpmesp.2015.323.1695","article-title":"Tamizaje nacional unificado de hipotiroidismo cong\u00e9nito en el Per\u00fa: Un programa inexistente [National congenital hypothyroidism screening in Peru: A broken program]","volume":"32","author":"Espinoza","year":"2015","journal-title":"Rev. Peru Med. Exp. Salud Publica"},{"key":"ref_1265","unstructured":"(2024, February 03). Direcci\u00f3n General de Intervenciones Estrat\u00e9gicas en Salud P\u00fablica. Ministerio de Salud. Lima\u2014Per\u00fa. Norma t\u00e9cnica de salud para el tamizaje neonatal de hipotiroidismo cong\u00e9nito, hiperplasia suprarrenal cong\u00e9nita, fenilcetonuria, fibrosis qu\u00edstica, hipoacusia cong\u00e9nita y catarata cong\u00e9nita. R.M. N\u00b0 558-2019\/MINSA. Available online: http:\/\/bvs.minsa.gob.pe\/local\/MINSA\/5045.pdf."},{"key":"ref_1266","doi-asserted-by":"crossref","first-page":"873","DOI":"10.1002\/mgg3.533","article-title":"Genetics and genomics in Peru: Clinical and research perspective","volume":"6","author":"Guio","year":"2018","journal-title":"Mol. Genet. Genomic Med."},{"key":"ref_1267","unstructured":"(2023, September 01). Congreso de la Rep\u00fablica del Per\u00fa. Proyecto de Ley 4210. Ley que Implementa el Derecho del Nacido vivo al Tamizaje Neonatal Universal en todo el Sistema de Salud. Available online: https:\/\/www.congreso.gob.pe\/Docs\/comisiones2022\/Salud\/files\/proyectos_de_ley\/proyecto_de_ley_4210.pdf."},{"key":"ref_1268","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1007\/s12687-015-0236-2","article-title":"Ethics, genetics and public policies in Uruguay: Newborn and infant screening as a paradigm","volume":"6","author":"Larrandaburu","year":"2015","journal-title":"J. Community Genet."},{"key":"ref_1269","unstructured":"International Atomic Energy Agency (2018). Screening Newborns for Health: Simple, Cost-Effective Nuclear Technique Prevents Mental Retardation in Developing Countries, International Atomic Energy Agency. Available online: https:\/\/www.iaea.org\/newscenter\/pressreleases\/screening-newborns-health-simple-cost-effective-nuclear-technique-prevents-mental-retardation-developing-countries."},{"key":"ref_1270","first-page":"243","article-title":"Newborn screening pilot program of hemoglobinopathies: First results in Uruguay","volume":"51","author":"Audicio","year":"2017","journal-title":"Acta Bioqu\u00edm. Cl\u00edn. Latinoam."},{"key":"ref_1271","doi-asserted-by":"crossref","first-page":"e20190002","DOI":"10.1590\/2326-4594-jiems-2019-0002","article-title":"Rare diseases in Uruguay: Focus on infants with abnormal newborn screening","volume":"7","author":"Larrandaburu","year":"2019","journal-title":"J. Inborn Errors Metab. Screen."},{"key":"ref_1272","doi-asserted-by":"crossref","first-page":"e20210008","DOI":"10.1590\/2326-4594-jiems-2021-0008","article-title":"25 Years of Newborn Screening in Uruguay","volume":"9","author":"Queijo","year":"2021","journal-title":"J. Inborn Errors Metab. Screen."},{"key":"ref_1273","first-page":"18","article-title":"Neonatal Screening Program (NSP) in Zulia\u2014Venezuela: Evaluation of Twelve Years of Experience","volume":"3","year":"2015","journal-title":"J. Inborn Errors Metab. Screen."},{"key":"ref_1274","unstructured":"Roz, G. Personal communication."},{"key":"ref_1275","unstructured":"(2023, February 28). The Anguillan. Ask Your Doctor: Sickle Cell Disease. Available online: https:\/\/theanguillian.com\/2021\/06\/ask-your-doctor-sickle-cell-disease-3\/."},{"key":"ref_1276","unstructured":"American University of Antigua College of Medicine (2023, February 26). AUA Sponsors Free Sickle Cell Screening Program for Newborns in Antigua. Available online: https:\/\/www.auamed.org\/news\/aua-sponsors-free-sickle-cell-screening-program-for-newborns-in-antigua\/."},{"key":"ref_1277","doi-asserted-by":"crossref","unstructured":"Belle Jarvis, S., Hadeed, E., Lee, K., Hardy-Dessources, M.D., Knight-Madden, J.M., and Richardson, C. (2023). Sickle cell disease newborn screening\u2014An audit of a twin island state pilot program. Int. J. Neonatal Screen., 9.","DOI":"10.3390\/ijns9010014"},{"key":"ref_1278","first-page":"301","article-title":"Estimated incidence of sickle-cell disease in Aruba and St Maarten suggests cost-effectiveness of a universal screening programme for St. Maarten","volume":"58","author":"Levenston","year":"2009","journal-title":"West Indian Med. J."},{"key":"ref_1279","unstructured":"Quashnock, J. Personal communication."},{"key":"ref_1280","first-page":"221","article-title":"Haemoglobin electrophoresis patterns in Barbados","volume":"48","author":"Lungu","year":"1999","journal-title":"West Indian Med. J."},{"key":"ref_1281","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1186\/1756-0500-7-102","article-title":"Clinical findings associated with homozygous sickle cell disease in the Barbadian population\u2014Do we need a national SCD registry?","volume":"7","author":"Quimby","year":"2014","journal-title":"BMC Res. Notes"},{"key":"ref_1282","unstructured":"(2023, February 20). Barbados Today. HOPE Urges More Screening for Sickle Cell. Available online: https:\/\/barbadostoday.bb\/2022\/06\/21\/hope-urges-more-screening-for-sickle-cell\/."},{"key":"ref_1283","first-page":"5584","article-title":"A pilot study of sickle cell anemia in the Belizean Population","volume":"130","author":"Jaffar","year":"2017","journal-title":"Blood"},{"key":"ref_1284","unstructured":"Ferreira, C. (2023, March 01). Genetic Disorders in the Cayman Islands. Public Health Spotlight, Available online: https:\/\/www.gov.ky\/health-wellness\/Public-Health.html."},{"key":"ref_1285","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1177\/0969141317695356","article-title":"Marie-Dominique Hardy-Dessources. Prevalence of sickle cell disease among Grenadian newborns","volume":"25","author":"Antoine","year":"2018","journal-title":"J. Med. Screen."},{"key":"ref_1286","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1177\/0969141313507919","article-title":"Universal newborn screening for haemoglobinopathies in Guadeloupe (French West Indies): A 27-year experience","volume":"20","author":"Romana","year":"2013","journal-title":"J. Med. Screen."},{"key":"ref_1287","unstructured":"Serjeant, G. (2021). Sickle Cell, Jamaica and Beyond: A Life, Ian Randle."},{"key":"ref_1288","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1111\/j.1365-2141.1986.tb04117.x","article-title":"Haemoglobin gene frequencies in the Jamaican population: A study in 100,000 newborns","volume":"64","author":"Serjeant","year":"1986","journal-title":"Br. J. Haematol."},{"key":"ref_1289","first-page":"147","article-title":"Newborn screening for sickle cell disease in Jamaica: A review\u2014Past, present and future","volume":"63","author":"King","year":"2014","journal-title":"West Indian Med. J."},{"key":"ref_1290","doi-asserted-by":"crossref","first-page":"e581","DOI":"10.1016\/S2352-3026(23)00205-3","article-title":"Sickle cell disease in the Caribbean: Progress in newborn screening, clinical care, and research through collaboration","volume":"10","author":"Asnani","year":"2023","journal-title":"Lancet Haematol."},{"key":"ref_1291","doi-asserted-by":"crossref","first-page":"113384","DOI":"10.1016\/j.jpeds.2023.02.030","article-title":"Factors affecting age of initial specialty clinic evaluation among infants with sickle cell disease in Kingston, Jamaica","volume":"257","author":"Abar","year":"2023","journal-title":"J. Pediatr."},{"key":"ref_1292","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1007\/s12687-016-0283-3","article-title":"Newborn screening for sickle cell disease in Jamaica: Logistics and experience with umbilical cord samples","volume":"8","author":"Serjeant","year":"2017","journal-title":"J. Community Genet."},{"key":"ref_1293","first-page":"61","article-title":"Sickle cell disease in the French West Indies","volume":"2005","year":"2005","journal-title":"Rev. Francoph. Lab."},{"key":"ref_1294","first-page":"426","article-title":"Cord blood thyrotropin screening for congenital hypothyroidism. Three years\u2019 experience on the Island of Saint Lucia","volume":"21","author":"Sajous","year":"1991","journal-title":"Ann. Clin. Lab. Sci."},{"key":"ref_1295","doi-asserted-by":"crossref","first-page":"e70","DOI":"10.26633\/RPSP.2017.70","article-title":"Knowledge of and attitudes toward heel prick screening for sickle cell disease in Saint Lucia","volume":"41","author":"Alexander","year":"2017","journal-title":"Rev. Panam. Salud Publica"},{"key":"ref_1296","doi-asserted-by":"crossref","first-page":"2333794X17739191","DOI":"10.1177\/2333794X17739191","article-title":"Newborn screening for sickle cell disease in St. Vincent and the Grenadines: Results of a pilot newborn screening program","volume":"4","author":"Williams","year":"2017","journal-title":"Glob. Pediatr. Health"},{"key":"ref_1297","unstructured":"(2023, July 13). Marrakech Declaration. Available online: https:\/\/cdn-links.lww.com\/permalink\/gim\/a\/gim_11_9_2009_06_08_krotoski_200542_sdc1.pdf."},{"key":"ref_1298","doi-asserted-by":"crossref","first-page":"191","DOI":"10.7707\/hmj.v5i3.192","article-title":"Newborn screening in the Middle East and North Africa\u2014Challenges and recommendations","volume":"5","author":"Shawky","year":"2012","journal-title":"Hamdan Med. J."},{"key":"ref_1299","doi-asserted-by":"crossref","unstructured":"Skrinska, V., Khneisser, I., Schielen, P., and Loeber, G. (2020). Introducing and expanding newborn screening in the MENA Region. Int. J. Neonatal Screen., 6.","DOI":"10.3390\/ijns6010012"},{"key":"ref_1300","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1097\/GIM.0b013e3181ab2277","article-title":"Conference report: Second conference of the Middle East and North Africa newborn screening initiative: Partnerships for sustainable newborn screening infrastructure and research opportunities","volume":"11","author":"Krotoski","year":"2009","journal-title":"Genet. Med."},{"key":"ref_1301","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1111\/resp.13437","article-title":"Spectrum of mutations of cystic fibrosis in the 22 Arab countries: A systematic review","volume":"24","author":"Abunada","year":"2019","journal-title":"Respirology"},{"key":"ref_1302","doi-asserted-by":"crossref","unstructured":"Al-Sadeq, D.W., and Nasrallah, G.K. (2020). The spectrum of mutations of homocystinuria in the MENA Region. Genes, 11.","DOI":"10.3390\/genes11030330"},{"key":"ref_1303","doi-asserted-by":"crossref","first-page":"678","DOI":"10.3389\/fimmu.2017.00678","article-title":"Primary immunodeficiency diseases in highly consanguineous populations from Middle East and North Africa: Epidemiology, diagnosis, and care","volume":"8","year":"2017","journal-title":"Front. Immunol."},{"key":"ref_1304","doi-asserted-by":"crossref","first-page":"2987","DOI":"10.3389\/fimmu.2019.02987","article-title":"Newborn screening for primary immunodeficiencies: The gaps, challenges, and outlook for developing countries","volume":"10","author":"Radwan","year":"2020","journal-title":"Front. Immunol."},{"key":"ref_1305","doi-asserted-by":"crossref","unstructured":"Hom, L.A., and Martin, G.R. (2020). Newborn critical congenital heart disease screening using pulse oximetry: Value and unique challenges in developing regions. Int. J. Neonatal Screen., 6.","DOI":"10.3390\/ijns6030074"},{"key":"ref_1306","first-page":"506","article-title":"Age at diagnosis and mental development in children with congenital hypothyroidism in the absence of newborn screening programme","volume":"86","author":"Ouarezki","year":"2016","journal-title":"Horm. Res. Paediatr."},{"key":"ref_1307","first-page":"275","article-title":"Outcome of congenital hypothyroidism in Algeria: The urgent need to implement a national newborn screening program","volume":"89","author":"Adel","year":"2019","journal-title":"Horm. Res. Paediatr."},{"key":"ref_1308","doi-asserted-by":"crossref","first-page":"54","DOI":"10.4103\/2314-8667.171521","article-title":"Results of the first universal newborn hearing screening in Algeria","volume":"2","author":"Boudjenah","year":"2015","journal-title":"Adv. Arab Acad. Audio-Vestibul J."},{"key":"ref_1309","first-page":"903219","article-title":"Newborn screening services in Bahrain between 1985 and 2010","volume":"2012","year":"2012","journal-title":"Adv. Hematol."},{"key":"ref_1310","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1515\/JPEM.2010.23.1-2.39","article-title":"Neonatal screening for congenital hypothyroidism: A retrospective hospital based study from Bahrain","volume":"23","author":"Golbahar","year":"2010","journal-title":"J. Pediatr. Endocrinol. Metab."},{"key":"ref_1311","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1016\/j.ymgme.2013.07.006","article-title":"Selective newborn screening of inborn errors of amino acids, organic acids and fatty acids metabolism in the Kingdom of Bahrain","volume":"110","author":"Golbahar","year":"2013","journal-title":"Mol. Genet. Metab."},{"key":"ref_1312","doi-asserted-by":"crossref","first-page":"148","DOI":"10.12816\/0047488","article-title":"Newborn hearing screening","volume":"38","author":"George","year":"2016","journal-title":"Bahrain Med. Bull."},{"key":"ref_1313","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1177\/0969141315618229","article-title":"Inborn errors of metabolism detectable by tandem mass spectrometry in Egypt: The first newborn screening pilot study","volume":"23","author":"Hassan","year":"2016","journal-title":"J. Med. Screen."},{"key":"ref_1314","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1016\/j.jare.2018.02.001","article-title":"Pilot study of classic galactosemia: Neurodevelopmental impact and other complications urge neonatal screening in Egypt","volume":"12","author":"Kotb","year":"2018","journal-title":"J. Adv. Res."},{"key":"ref_1315","doi-asserted-by":"crossref","first-page":"155","DOI":"10.2174\/1871530317666171003160350","article-title":"Study of glucose-6.-phosphate dehydrogenase deficiency: 5 years retrospective Egyptian study","volume":"18","author":"Hagag","year":"2018","journal-title":"Endocr. Metab Immune Disord. Drug Targets"},{"key":"ref_1316","doi-asserted-by":"crossref","first-page":"193","DOI":"10.2147\/IJGM.S180706","article-title":"Screening for galactosemia: Is there a place for it?","volume":"12","author":"Kotb","year":"2019","journal-title":"Int. J. Gen. Med."},{"key":"ref_1317","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1016\/j.arcped.2021.11.002","article-title":"Selective screening for inborn errors of metabolism by tandem mass spectrometry at Sohag University Hospital, Egypt","volume":"29","author":"Magdy","year":"2022","journal-title":"Arch. Pediatr."},{"key":"ref_1318","unstructured":"Egypt Today (2022, November 07). Egypt Screens 107,000 Neonates under Initiative to Detect Genetic Disease. Available online: https:\/\/www.egypttoday.com\/Article\/1\/115524\/Egypt-screens-107-000-neonates-under-initiative-to-detect-genetic."},{"key":"ref_1319","unstructured":"Khafagy, H. (2020, January 8\u201311). Future view of Egyptian neonatal screening program. Proceedings of the 4th Meeting of the Middle East North Africa (MENA) Region of the International Society for Neonatal Screening (ISNS), Limassol, Cyprus."},{"key":"ref_1320","doi-asserted-by":"crossref","first-page":"100514","DOI":"10.1016\/j.ymgmr.2019.100514","article-title":"Molecular based newborn screening in Germany: Follow-up for cystinosis","volume":"21","author":"Hohenfellner","year":"2019","journal-title":"Mol. Genet. Metab. Rep."},{"key":"ref_1321","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1007\/s44162-023-00010-1","article-title":"A brief insight into the rare diseases in Egypt","volume":"2","author":"Taha","year":"2023","journal-title":"J. Rare Dis."},{"key":"ref_1322","first-page":"e99099","article-title":"A success story: Review of the implementation and achievements of the national newborn screening program for congenital hypothyroidism in Iran","volume":"18","author":"Yarahmadi","year":"2020","journal-title":"Int. J. Endocrinol. Metab."},{"key":"ref_1323","doi-asserted-by":"crossref","first-page":"e131081","DOI":"10.5812\/ijem-131081","article-title":"Physical development at school entry in children with congenital hypothyroidism diagnosed by the national program of newborn screening in Iran","volume":"21","author":"Yarahmadi","year":"2022","journal-title":"Int. J. Endocrinol. Metab."},{"key":"ref_1324","doi-asserted-by":"crossref","first-page":"F176","DOI":"10.1136\/archdischild-2017-313720","article-title":"Evaluation of the congenital hypothyroidism screening programme in Iran: A 3-year retrospective cohort study","volume":"104","author":"Mehran","year":"2019","journal-title":"Arch. Dis. Child. Fetal Neonatal Ed."},{"key":"ref_1325","first-page":"310","article-title":"Audit of the congenital hypothyroidism screening program in 15 provinces of Iran","volume":"22","author":"Mehran","year":"2019","journal-title":"Arch. Iran. Med."},{"key":"ref_1326","doi-asserted-by":"crossref","first-page":"3048","DOI":"10.19082\/3048","article-title":"Challenges of implementation of the national phenylketonuria screening program in Iran: A qualitative study","volume":"8","author":"Heidari","year":"2016","journal-title":"Electron. Physician"},{"key":"ref_1327","doi-asserted-by":"crossref","unstructured":"Shokri, M., Karimi, P., Zamanifar, H., Kazemi, F., Badfar, G., and Azami, M. (2020). Phenylketonuria screening in Iranian newborns: A systematic review and meta-analysis. BMC Pediatr., 20.","DOI":"10.1186\/s12887-020-02230-6"},{"key":"ref_1328","doi-asserted-by":"crossref","first-page":"95","DOI":"10.3109\/08880018.2013.871613","article-title":"Why does the Iranian national program of screening newborns for G6PD enzyme deficiency miss a large number of affected infants?","volume":"31","author":"Kosaryan","year":"2014","journal-title":"Pediatr. Hematol. Oncol."},{"key":"ref_1329","doi-asserted-by":"crossref","unstructured":"Heidari, A., Arab, M., and Damari, B. (2021). A policy analysis of the national phenylketonuria screening program in Iran. BMC Health Serv. Res., 21.","DOI":"10.1186\/s12913-021-06116-w"},{"key":"ref_1330","doi-asserted-by":"crossref","first-page":"331","DOI":"10.26719\/emhj.19.045","article-title":"Health-related quality of life of parents of children with phenylketonuria in Tehran Province, Islamic Republic of Iran","volume":"26","author":"Etemad","year":"2020","journal-title":"East. Mediterr. Health J."},{"key":"ref_1331","doi-asserted-by":"crossref","first-page":"e24471","DOI":"10.1002\/jcla.24471","article-title":"Incorporation of second-tier tests and secondary biomarkers to improve positive predictive value (PPV) rate in newborn metabolic screening program","volume":"36","author":"Younesi","year":"2022","journal-title":"J. Clin. Lab. Anal."},{"key":"ref_1332","first-page":"221","article-title":"Newborn screening data management: Proposing a framework for Iran","volume":"25","author":"Ayatollahi","year":"2018","journal-title":"J. Innov. Health Inform."},{"key":"ref_1333","doi-asserted-by":"crossref","unstructured":"Tajmir-Riahi, A., Khatami, S., Shemirani, F., and Mirzazadeh, R. (2023). Two fluorimetric determinations of acid \u03b1-glucosidase activity in dried blood spot: Pompe disease in Iranian population. Anal. Biochem., 682.","DOI":"10.1016\/j.ab.2023.115346"},{"key":"ref_1334","unstructured":"Mahmood, R.H. (2020, January 8\u201311). Newborn screening in Iraq. Proceedings of the 4th Meeting of the Middle East North Africa (MENA) Region of the International Society for Neonatal Screening (ISNS), Limassol, Cyprus."},{"key":"ref_1335","unstructured":"(2022, December 08). U.S. Agency for International Development (USAID) Primary Health Care Project in Iraq. National Guideline of Newborn Screening for Care Providers in PHC Centers Iraq 2014. University Research Co., LLC, Available online: https:\/\/studylib.net\/doc\/6617400\/newborn-screening---primary-health-care-iraq."},{"key":"ref_1336","first-page":"40","article-title":"Overview of neonatal screening program applied at primary health care centers in Baghdad\/Iraq","volume":"4","author":"Alkhazrajy","year":"2016","journal-title":"Int. J. Community Coop. Stud."},{"key":"ref_1337","first-page":"6","article-title":"Evaluation of newborn screening program in Baghdad Al-Karkh health directorate in 2018","volume":"8","author":"Atshan","year":"2019","journal-title":"Pharma Innovat. J."},{"key":"ref_1338","first-page":"66","article-title":"Knowledge and attitudes of mothers toward newborn screening test in Baghdad City","volume":"10","author":"Twfeeq","year":"2016","journal-title":"Diyala J. Med."},{"key":"ref_1339","doi-asserted-by":"crossref","first-page":"20","DOI":"10.31386\/dmj.2019.12.1.33","article-title":"Neonatal screening for congenital hypothyroidism in Duhok Governorate (Iraq): A preliminary study","volume":"13","author":"Mustafa","year":"2019","journal-title":"Duhok Med. J."},{"key":"ref_1340","unstructured":"Khneisser, I. (2020, January 8\u201311). Targeted NBS Program in Kurdistan Region\u2014Iraq. Paper presented at the 4th Meeting of the Middle East North Africa (MENA) Region of the International Society for Neonatal Screening (ISNS), Limassol, Cyprus."},{"key":"ref_1341","doi-asserted-by":"crossref","first-page":"100737","DOI":"10.1016\/j.ymgmr.2021.100737","article-title":"Serendipitous discovery of phenylketonuria in Iraq\u2014How to identify and treat?","volume":"27","author":"Bjoraker","year":"2021","journal-title":"Mol. Genet. Metab. Rep."},{"key":"ref_1342","first-page":"808","article-title":"Risk factors of congenital hypothyroidism in Israel","volume":"25","author":"Abbasi","year":"2022","journal-title":"Isr. Med. Assoc. J."},{"key":"ref_1343","unstructured":"Israel Ministry of Health (2022, December 13). The Ministry of Health National Program of Infant Screening Tests, Available online: https:\/\/www.health.gov.r\/English\/Topics\/Genetics\/InfantScreening\/Pages\/default.aspx."},{"key":"ref_1344","unstructured":"Zchut, K. (2022, December 13). Screening Newborns for Serious Diseases. Israel Ministry of Health. The Ministry of Health National Screening Newborns for Serious Disease, Available online: https:\/\/wchutww.kolzchut.org.il\/en\/Screening_Newborns_for_Serious_Diseases."},{"key":"ref_1345","doi-asserted-by":"crossref","unstructured":"Zuckerman, S. (2017). Indifferent or uninformed? Reflections of health professionals on parental education and consent for expanded newborn screening in Israel, 2008\u20132016. Int. J. Neonatal Screen., 3.","DOI":"10.3390\/ijns3020012"},{"key":"ref_1346","doi-asserted-by":"crossref","first-page":"1448","DOI":"10.3389\/fimmu.2017.01448","article-title":"First year of Israeli newborn screening for severe combined immunodeficiency\u2014Clinical achievements and insights","volume":"8","author":"Rechavi","year":"2017","journal-title":"Front. Immunol."},{"key":"ref_1347","doi-asserted-by":"crossref","first-page":"2722","DOI":"10.1016\/j.jaip.2022.04.013","article-title":"Lessons learned from five years of newborn screening for severe combined immunodeficiency in Israel","volume":"10","author":"Lev","year":"2022","journal-title":"J. Allergy Clin. Immunol. Pract."},{"key":"ref_1348","doi-asserted-by":"crossref","first-page":"2732","DOI":"10.1016\/j.jaip.2022.08.014","article-title":"A spot of good news: Israeli experience with SCID newborn screening","volume":"10","author":"Puck","year":"2022","journal-title":"J. Allergy Clin. Immunol. Pract."},{"key":"ref_1349","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1002\/jimd.12580","article-title":"Addition of galactose-1-phosphate measurement enhances newborn screening for classical galactosemia","volume":"46","author":"Daas","year":"2023","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_1350","doi-asserted-by":"crossref","first-page":"2214","DOI":"10.1194\/jlr.M087999","article-title":"Newborn screening for cerebrotendinous xanthomatosis is the solution for early identification and treatment","volume":"59","author":"DeBarber","year":"2018","journal-title":"J. Lipid Res."},{"key":"ref_1351","doi-asserted-by":"crossref","first-page":"460","DOI":"10.1016\/j.jcf.2015.08.007","article-title":"The impact of a national population carrier screening program on cystic fibrosis birth rate and age at diagnosis: Implications for newborn screening","volume":"15","author":"Prais","year":"2016","journal-title":"J. Cyst Fibros."},{"key":"ref_1352","unstructured":"Blau, H. (2017, January 7\u201310). Barrers to newborn screening for CF: Israel. Paper Presented at the 40th European Cystic Fibrosis Meeting, Seville, Spain."},{"key":"ref_1353","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1007\/s12687-018-0361-9","article-title":"Coming to terms with the imperfectly normal child: Attitudes of Israeli parents of screen-positive infants regarding subsequent prenatal diagnosis","volume":"10","author":"Raz","year":"2019","journal-title":"J. Community Genet."},{"key":"ref_1354","doi-asserted-by":"crossref","first-page":"147728","DOI":"10.1016\/j.gene.2023.147728","article-title":"Severe early-onset Wilson disease caused by a common pathogenic variant in the Bukharan Jewish population in Israel","volume":"887","author":"Orenstein","year":"2023","journal-title":"Gene"},{"key":"ref_1355","doi-asserted-by":"crossref","first-page":"580","DOI":"10.1057\/s41292-017-0110-z","article-title":"Divergent evolution of newborn screening: Israel and the US as gene worlds","volume":"13","author":"Raz","year":"2018","journal-title":"BioSocieties"},{"key":"ref_1356","doi-asserted-by":"crossref","first-page":"e17","DOI":"10.1017\/S001667231500018X","article-title":"Next generation sequencing for newborn screening: Are we there yet?","volume":"97","author":"Friedman","year":"2015","journal-title":"Genet. Res."},{"key":"ref_1357","doi-asserted-by":"crossref","first-page":"e21","DOI":"10.1017\/S0016672315000178","article-title":"Challenges of using next generation sequencing in newborn screening","volume":"97","author":"Reinstein","year":"2015","journal-title":"Genet. Res."},{"key":"ref_1358","unstructured":"Jaradat, N. Establishing a National Newborn Screening Program in Jordan and Review of the Literature. [Master\u2019s Thesis, Sarah Lawrence College]. Available online: https:\/\/www.proquest.com\/docview\/305076548?pq-origsite=gscholar&fromopenview=true."},{"key":"ref_1359","doi-asserted-by":"crossref","unstructured":"Dababneh, S., Alsbou, M., Taani, N., Sharkas, G., Ismael, R., Maraqa, L., Nemri, O., Al-Jawaldeh, H., Kopti, N., and Atieh, E. (2022). Epidemiology of phenylketonuria disease in Jordan: Medical and nutritional challenges. Children, 9.","DOI":"10.3390\/children9030402"},{"key":"ref_1360","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1002\/jmd2.12130","article-title":"Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan","volume":"55","author":"Carducci","year":"2020","journal-title":"JIMD Rep."},{"key":"ref_1361","doi-asserted-by":"crossref","first-page":"3327277","DOI":"10.1155\/2021\/3327277","article-title":"Hereditary tyrosinemia type 1 in Jordan: A retrospective study","volume":"2021","author":"Megdadi","year":"2021","journal-title":"Int. J. Pediatr."},{"key":"ref_1362","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1007\/s12687-021-00572-x","article-title":"Mothers\u2019 knowledge and attitudes about newborn screening in Jordan","volume":"13","author":"Kasem","year":"2022","journal-title":"J. Community Genet."},{"key":"ref_1363","unstructured":"UNICEF and Ministry of Health (2022, December 08). Newborn Screening Program Manual. January 2022. Available online: https:\/\/www.unicef.org\/jordan\/reports\/newborns-screening-program-manual."},{"key":"ref_1364","doi-asserted-by":"crossref","unstructured":"Alsharhan, H., Ahmed, A.A., Ali, N.M., Alahmad, A., Albash, B., Elshafie, R.M., Alkanderi, S., Elkazzaz, U.M., Cyril, P.X., and Abdelrahman, R.M. (2021). Early Diagnosis of Classic homocystinuria in Kuwait through newborn screening: A 6-year experience. Int. J. Neonatal Screen., 7.","DOI":"10.3390\/ijns7030056"},{"key":"ref_1365","doi-asserted-by":"crossref","first-page":"S1","DOI":"10.1016\/j.gim.2022.01.039","article-title":"Newborn screening experience for very long chain Acyl-CoA Dehydrogenase (VLCAD) deficiency in Kuwait","volume":"24","author":"Alabdulrazzaq","year":"2022","journal-title":"Genet. Med."},{"key":"ref_1366","doi-asserted-by":"crossref","first-page":"S441","DOI":"10.1007\/s10545-008-1008-5","article-title":"International cooperation in the expansion of a newborn screening programme in Lebanon: A possible model for other programmes","volume":"31","author":"Khneisser","year":"2008","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_1367","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1177\/0969141315590675","article-title":"Cost-benefit analysis: Newborn screening for inborn errors of metabolism in Lebanon","volume":"22","author":"Khneisser","year":"2015","journal-title":"J. Med. Screen."},{"key":"ref_1368","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1007\/s12687-014-0203-3","article-title":"A review of the diverse genetic disorders in the Lebanese population: Highlighting the urgency for community genetic services","volume":"6","author":"Nakouzi","year":"2015","journal-title":"J. Community Genet."},{"key":"ref_1369","doi-asserted-by":"crossref","unstructured":"Farra, C., Daher, R., Badra, R., el Rafei, R., Bejjany, R., Charafeddine, L., and Yunis, K. (2015). Incidence of alpha-globin gene defect in the Lebanese population: A pilot study. BioMed Res. Int., 2015.","DOI":"10.1155\/2015\/517679"},{"key":"ref_1370","doi-asserted-by":"crossref","unstructured":"Khoriaty, E., Halaby, R., Berro, M., Sweid, A., Abbas, H.A., and Inati, A. (2014). Incidence of sickle cell disease and other hemoglobin variants in 10,095 Lebanese neonates. PLoS ONE, 9.","DOI":"10.1371\/journal.pone.0105109"},{"key":"ref_1371","unstructured":"American University of Beirut Medical Center (AUBMC) (2022, November 15). Launching of the National Program of Neonatal Screening for Primary Immunodeficiency Diseases (NaSPID). Available online: https:\/\/aubmc.org.lb\/Pages\/National-Program-of-Neonatal-Screening-for-Primary-Immunodeficiency-Diseases.aspx."},{"key":"ref_1372","unstructured":"Khneisser, I. (2020, January 8\u201311). Newborn screening in Lebanon: 25 years\u2019 experience. Paper Presented at the 4th Meeting of the Middle East North Africa (MENA) Region of the International Society for Neonatal Screening (ISNS), Limassol, Cyprus."},{"key":"ref_1373","doi-asserted-by":"crossref","unstructured":"Schickh, S.A. (2014). The Status of Newborn Screening in Libya: The Experiences of Physicians in Libya with Regards to Congenital Disorders and Their Attitudes toward Newborn Screening. [Master\u2019s Thesis, Sarah Lawrence College].","DOI":"10.1016\/j.clinbiochem.2014.07.029"},{"key":"ref_1374","doi-asserted-by":"crossref","first-page":"407","DOI":"10.2165\/11535530-000000000-00000","article-title":"Cost effectiveness of establishing a neonatal screening programme for phenylketonuria in Libya","volume":"8","author":"Sladkevicius","year":"2010","journal-title":"Appl. Health Econ. Health Policy"},{"key":"ref_1375","doi-asserted-by":"crossref","first-page":"60","DOI":"10.30574\/wjbphs.2022.10.3.0085","article-title":"Prevalence and profile of inherited metabolic disorders in Libya: Single center experience","volume":"10","author":"Ismail","year":"2022","journal-title":"World J. Biol. Pharm. Health Sci."},{"key":"ref_1376","doi-asserted-by":"crossref","first-page":"522","DOI":"10.1007\/s10545-007-0553-7","article-title":"Implementation of extended neonatal screening and a metabolic unit in the State of Qatar: Developing and optimizing strategies in cooperation with the Neonatal Screening Center in Heidelberg","volume":"30","author":"Lindner","year":"2007","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_1377","first-page":"6","article-title":"Newborn screening: Research to policy","volume":"43","author":"Basilio","year":"2009","journal-title":"Acta Med. Philipp."},{"key":"ref_1378","unstructured":"Rfifi, K.E. (2020, January 8\u201311). IEM and NSP Libya. Paper Presented at the 4th Meeting of the Middle East North Africa (MENA) Region of the International Society for Neonatal Screening (ISNS), Limassol, Cyprus."},{"key":"ref_1379","unstructured":"(2022, November 02). U.S. National Institutes of Health. Marrakech Declaration. Available online: http:\/\/links.lww.com\/GIM\/A81."},{"key":"ref_1380","doi-asserted-by":"crossref","first-page":"593","DOI":"10.1007\/s10545-007-0634-7","article-title":"An international training and support programme for the establishment of neonatal screening in developing countries","volume":"30","author":"Fukushi","year":"2007","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_1381","unstructured":"Chabraoui, L. (2020, January 8\u201311). The Status of Newborn Screening Program in Morocco. Paper Presented at the 4th Meeting of the Middle East North Africa (MENA) Region of the International Society for Neonatal Screening (ISNS), Limassol, Cyprus."},{"key":"ref_1382","doi-asserted-by":"crossref","first-page":"1066","DOI":"10.26719\/2018.24.11.1066","article-title":"Depistage de l\u2019hypothyroidie congenitale au Maroc: Etude pilote","volume":"24","author":"Maniar","year":"2019","journal-title":"East. Mediterr. Health J."},{"key":"ref_1383","doi-asserted-by":"crossref","first-page":"227","DOI":"10.3390\/pediatric15010018","article-title":"Moroccan experience of targeted screening for inborn errors of metabolism by tandem mass spectrometry","volume":"15","author":"Meiouet","year":"2023","journal-title":"Pediatr. Rep."},{"key":"ref_1384","doi-asserted-by":"crossref","unstructured":"El Idrissi Slitine, N., Bennaoui, F., Sable, C.A., Martin, G.R., Hom, L.A., Fadel, A., Moussaoui, S., Inajjarne, N., Boumzebra, D., and Mouaffak, Y. (2020). Pulse oximetry and congenital heart disease screening: Results of the first pilot study in Morocco. Int. J. Neonatal Screen., 6.","DOI":"10.3390\/ijns6030053"},{"key":"ref_1385","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1093\/tropej\/44.2.81","article-title":"Congenital hypothyroid screening: The Oman experience","volume":"44","author":"Elbualy","year":"1998","journal-title":"J. Trop. Pediatr."},{"key":"ref_1386","unstructured":"(2022, November 07). Oman Ministry of Health. Congenital Hypothyroidism Guideline for Neonatal Screening and Management. May 2021, Available online: https:\/\/www.moh.gov.om\/documents\/272928\/4017900\/Updated+Guidelines+for+the+Management+of+Congenital+Hypothyroidism+-+2021+%28Final%29.pdf\/76648589-7fac-c2e9-b1ff-935086b0372e."},{"key":"ref_1387","doi-asserted-by":"crossref","first-page":"135","DOI":"10.3109\/03630261003677213","article-title":"Forecasting hemoglobinopathy burden through neonatal screening in Omani neonates","volume":"34","author":"Alkindi","year":"2010","journal-title":"Hemoglobin"},{"key":"ref_1388","first-page":"e2019005","article-title":"The use of HPLC as a tool for neonatal cord blood screening of haemoglobinopathy: A validation study","volume":"11","author":"Pathare","year":"2019","journal-title":"Mediterr. J. Hematol. Infect. Dis."},{"key":"ref_1389","doi-asserted-by":"crossref","first-page":"346","DOI":"10.5001\/omj.2012.89","article-title":"Newborn screening program for Oman: The time is here and now","volume":"27","author":"Joshi","year":"2012","journal-title":"Oman Med. J."},{"key":"ref_1390","doi-asserted-by":"crossref","first-page":"e426","DOI":"10.5001\/omj.2022.88","article-title":"Establishment and validation of reference values for amino acids and acylcarnitines in dried blood spots for Omani newborns using tandem mass spectrometry","volume":"37","year":"2022","journal-title":"Oman Med. J."},{"key":"ref_1391","doi-asserted-by":"crossref","first-page":"623199","DOI":"10.3389\/fimmu.2020.623199","article-title":"A decade experience on severe combined immunodeficiency phenotype in Oman, bridging to newborn screening","volume":"11","author":"Cook","year":"2021","journal-title":"Front. Immunol."},{"key":"ref_1392","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1016\/j.ijporl.2005.08.020","article-title":"Neonatal screening for hearing impairment\u2014The Oman experience","volume":"70","author":"Khandekar","year":"2006","journal-title":"Int. J. Pediatr. Otorhinolaryngol."},{"key":"ref_1393","doi-asserted-by":"crossref","first-page":"139","DOI":"10.15344\/2456-3501\/2018\/139","article-title":"Challenges in neonatal screening in health care system","volume":"3","author":"Mullaicharam","year":"2018","journal-title":"Int. J. Clin. Pharmacol. Pharmacother."},{"key":"ref_1394","unstructured":"(2022, December 02). Newborn Screening in Qatar: An Interview with Dr. Skrinska. Available online: https:\/\/baebies.com\/newborn-screening-qatar-skrinska\/."},{"key":"ref_1395","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1007\/s12519-017-0003-z","article-title":"Newborn screening for remethylation disorders and vitamin B12 deficiency-evaluation of new strategies in cohorts from Qatar and Germany","volume":"13","author":"Gramer","year":"2017","journal-title":"World J. Pediatr."},{"key":"ref_1396","doi-asserted-by":"crossref","unstructured":"Ramaswamy, M., Skrinska, V.A., Mitri, R.F., and Abdoh, G. (2019). Diagnosis of carnitine deficiency in extremely preterm neonates related to parenteral nutrition: Two step newborn screening approach. Int. J. Neonatal Screen., 5.","DOI":"10.3390\/ijns5030029"},{"key":"ref_1397","unstructured":"Hamad Medical Corporation (2024, March 27). For a Better Health of Qatar\u2019s Newborns, HMC Rare Disease Center launches the First Q-Chip Based Expanded Genomic Newborn Screening Pilot Study. Available online: https:\/\/www.hamad.qa\/EN\/news\/2024\/March\/Pages\/For-a-better-health-of-Qatar-newborns-HMC-Rare-Disease-Center-launches.aspx."},{"key":"ref_1398","doi-asserted-by":"crossref","first-page":"235","DOI":"10.5144\/0256-4947.1992.235","article-title":"Comprehensive newborn screening program: Aramco experience, the national need and recommendations","volume":"12","author":"Mallouh","year":"1992","journal-title":"Ann. Saudi Med."},{"key":"ref_1399","doi-asserted-by":"crossref","first-page":"703","DOI":"10.15537\/smj.2020.7.25147","article-title":"Incidence of newborn screening disorders among 56,632 infants in Central Saudi Arabia. A 6-year study","volume":"41","author":"Mohamed","year":"2020","journal-title":"Saudi Med. J."},{"key":"ref_1400","doi-asserted-by":"crossref","unstructured":"Al-Sulaiman, A., Kondkar, A.A., Saeedi, M.Y., Saadallah, A., Al-Odaib, A., and Abu-Amero, K.K. (2015). Assessment of the knowledge and attitudes of Saudi mothers towards newborn screening. BioMed Res. Int., 2015.","DOI":"10.1155\/2015\/718674"},{"key":"ref_1401","first-page":"24632","article-title":"Expanded newborn screening programs in Saudi Arabia; A questionnaire-based study","volume":"32","author":"Raja","year":"2020","journal-title":"Biomed. J. Sci. Tech. Res."},{"key":"ref_1402","doi-asserted-by":"crossref","first-page":"608","DOI":"10.1016\/j.jiph.2019.06.001","article-title":"National screening programs in Saudi Arabia: Overview, outcomes, and effectiveness","volume":"12","author":"Gosadi","year":"2019","journal-title":"J. Infect. Public Health"},{"key":"ref_1403","unstructured":"Saudi Arabia Ministry of Health (2022, November 11). MOH News: MOH Launches the 1st Phase of Newborn Screening for Hearing-Loss and CCHD Program, Available online: https:\/\/www.moh.gov.sa\/en\/Ministry\/MediaCenter\/News\/Pages\/News-2016-10-09-001.aspx."},{"key":"ref_1404","doi-asserted-by":"crossref","first-page":"1242","DOI":"10.1111\/jpc.13747","article-title":"Expanded newborn screening programme in Saudi Arabia: Are We Ready?","volume":"53","author":"Aqeel","year":"2017","journal-title":"J. Paediatr. Child Health"},{"key":"ref_1405","first-page":"555753","article-title":"Towards a uniform newborn screening panel in the Kingdom of Saudi Arabia","volume":"6","author":"Bahshir","year":"2018","journal-title":"Acad. J. Ped. Neonatol."},{"key":"ref_1406","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1111\/jpc.13469","article-title":"Expanded newborn screening program in Saudi Arabia: Incidence of screened disorders","volume":"53","author":"Alfadhel","year":"2017","journal-title":"J. Paediatr. Child Health"},{"key":"ref_1407","doi-asserted-by":"crossref","first-page":"1034","DOI":"10.1111\/jpc.13669","article-title":"Reflection on the expanded newborn screening programme in Saudi Arabia: Incidence of screened disorders","volume":"53","author":"Mohamed","year":"2017","journal-title":"J. Paediatr. Child Health"},{"key":"ref_1408","doi-asserted-by":"crossref","first-page":"782","DOI":"10.3389\/fimmu.2018.00782","article-title":"High incidence of severe combined immunodeficiency disease in Saudi Arabia detected through combined T cell receptor excision circle and next generation sequencing of newborn dried blood spots","volume":"9","author":"Jabr","year":"2018","journal-title":"Front. Immunol."},{"key":"ref_1409","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1016\/j.jsps.2021.03.009","article-title":"A pilot study on screening for gestational\/congenital toxoplasmosis of pregnant women at delivery in the Eastern Province of Saudi Arabia","volume":"29","author":"Dar","year":"2021","journal-title":"Saudi Pharm. J."},{"key":"ref_1410","doi-asserted-by":"crossref","first-page":"107","DOI":"10.5144\/0256-4947.2022.107","article-title":"Cut-off values in newborn screening for inborn errors of metabolism in Saudi Arabia","volume":"42","author":"Khan","year":"2022","journal-title":"Ann. Saudi Med."},{"key":"ref_1411","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1159\/000523827","article-title":"Health information exchange in relation to long-term follow-up data system in newborn screening program: General overview and the Saudi status","volume":"2","author":"AlAhaidib","year":"2022","journal-title":"Saudi J. Health Syst. Res."},{"key":"ref_1412","doi-asserted-by":"crossref","unstructured":"Mujamammi, A.H. (2022). Insights into national laboratory newborn screening and future prospects. Medicina, 58.","DOI":"10.3390\/medicina58020272"},{"key":"ref_1413","first-page":"101045","article-title":"Accurate determination of biotinidase activity in serum by HPLC and its utilization as second tier test for the confirmation of initial positive newborn screening results","volume":"38","author":"Saad","year":"2023","journal-title":"Mol. Genet. Metab. Rep."},{"key":"ref_1414","first-page":"11","article-title":"Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: A five-year retrospective study in the Children\u2019s Hospital of Damascus, Syria","volume":"2015","author":"AlebrahIm","year":"2015","journal-title":"Qatar Med. J."},{"key":"ref_1415","doi-asserted-by":"crossref","first-page":"7","DOI":"10.5339\/qmj.2019.7","article-title":"Congenital hypothyroidism: A five-year retrospective study at Children\u2019s University Hospital, Damascus, Syria","volume":"2019","author":"Saoud","year":"2019","journal-title":"Qatar Med. J."},{"key":"ref_1416","doi-asserted-by":"crossref","first-page":"9","DOI":"10.5339\/qmj.2015.9","article-title":"Diagnosis and clinical features of organic acidemias: A hospital-based study in a single center in Damascus, Syria","volume":"2015","author":"Shennar","year":"2015","journal-title":"Qatar Med. J."},{"key":"ref_1417","unstructured":"(2022, November 02). Screening for Health: Tunisia; International Atomic Energy Agency (IAEA), Department of Technical Cooperation: Vienna, Austria. Available online: https:\/\/inis.iaea.org\/collection\/NCLCollectionStore\/_public\/34\/028\/34028287.pdf."},{"key":"ref_1418","doi-asserted-by":"crossref","first-page":"49","DOI":"10.5144\/0256-4947.2012.49","article-title":"A lower-cost protocol for sickle cell disease neonatal screening in Tunisia","volume":"32","author":"Hajer","year":"2012","journal-title":"Ann. Saudi Med."},{"key":"ref_1419","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1016\/j.clineuro.2011.07.016","article-title":"Phenylketonuria is still a major cause of mental retardation in Tunisia despite the possibility of treatment","volume":"113","author":"Khemir","year":"2011","journal-title":"Clin. Neurol. Neurosurg."},{"key":"ref_1420","doi-asserted-by":"crossref","unstructured":"Mezzi, N., Messaoud, O., Mkaouar, R., Zitouna, N., Romdhane, S., Abdessalem, G., Charfeddine, C., Maazoul, F., Ouerteni, I., and Hamdi, Y. (2021). Spectrum of genetic diseases in Tunisia: Current situation and main milestones achieved. Genes, 12.","DOI":"10.3390\/genes12111820"},{"key":"ref_1421","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1002\/mgg3.392","article-title":"Genetics and genomic medicine in Tunisia","volume":"6","author":"Chaabouni","year":"2018","journal-title":"Mol. Genet. Genomic Med."},{"key":"ref_1422","doi-asserted-by":"crossref","first-page":"17","DOI":"10.26719\/2014.20.1.17","article-title":"Expanding the comprehensive national neonatal screening programme in the United Arab Emirates from 1995 to 2011","volume":"20","author":"Salah","year":"2014","journal-title":"East. Mediterr. Health J."},{"key":"ref_1423","first-page":"127","article-title":"Inborn errors of metabolism in the United Arab Emirates: Disorders detected by newborn screening (2011\u20132014)","volume":"28","author":"Hertecant","year":"2016","journal-title":"JIMD Rep."},{"key":"ref_1424","doi-asserted-by":"crossref","unstructured":"Abdelmoety, D.A., Almatary, A., Alsheef, M., and AlFayyad, I. (2020). Epidemiology of thalassemia in Gulf Cooperation Council Countries: A systematic review. BioMed Res. Int., 2020.","DOI":"10.1155\/2020\/1509501"},{"key":"ref_1425","doi-asserted-by":"crossref","unstructured":"Elsaban, M., Ahmad, D., Toba, N.J.A., Alsaeed, T., and Abusalah, Z.G. (2021, January 6\u20137). Five year evaluation of the newborn screening programme in Dubai, United Arab Emirates: A cross sectional study. Proceedings of the Royal College of Pediatrics and Child Health Conference, Singapore.","DOI":"10.1136\/bmjpo-2021-RCPCH.220"},{"key":"ref_1426","doi-asserted-by":"crossref","first-page":"1299","DOI":"10.1007\/s00246-013-0692-6","article-title":"Regional implementation of newborn screening for critical congenital heart disease screening in Abu Dhabi","volume":"34","author":"Moore","year":"2013","journal-title":"Pediatr. Cardiol."},{"key":"ref_1427","unstructured":"Emirates News Agency\u2014WAM (2022, December 04). Ministry of Health Launches Critical Congenital Heart Disease Screening Programme for newborns. Available online: http:\/\/wam.ae\/en\/details\/1395302696427."},{"key":"ref_1428","doi-asserted-by":"crossref","unstructured":"Zarouni, S.A., Mheiri, N.M.A., Blooshi, K.A., Serkal, Y.A., Preman, N., Naqvi, S.A., and Khan, Y. (2022). Impact of an electronic medical record-based automated screening program for critical congenital heart disease: Emirates Health Services, United Arab Emirates. BMC Med. Inform. Decis. Mak., 22.","DOI":"10.1186\/s12911-022-01900-y"},{"key":"ref_1429","first-page":"2616890","article-title":"Emerging data from a newborn hearing screening program in Sharjah, United Arab Emirates","volume":"1","author":"Ayas","year":"2021","journal-title":"Int. J. Pediatr."},{"key":"ref_1430","unstructured":"El-Din Riad, M. (2020, January 8\u201311). Newborn screening in United Arab Emirates. Proceedings of the 4th Meeting of the Middle East North Africa (MENA) Region of the International Society for Neonatal Screening (ISNS), Limassol, Cyprus."},{"key":"ref_1431","doi-asserted-by":"crossref","first-page":"801","DOI":"10.1038\/s41576-023-00654-1","article-title":"Unequal global implementation of genomic newborn screening","volume":"24","year":"2023","journal-title":"Nat. Rev. Genet."},{"key":"ref_1432","unstructured":"Sirdah, M. Personal communication."},{"key":"ref_1433","unstructured":"Khatib, S., and Ayyad, A. (2014, January 27\u201330). A pilot study on an expanded newborn screening program in Palestine\u2014Phase II. Proceedings of the U.S. Newborn Screening and Genetic Testing Symposium, Anaheim, CA, USA. Available online: https:\/\/www.aphl.org\/conferences\/proceedings\/documents\/2014\/nbs\/59katib.pdf."},{"key":"ref_1434","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1111\/cge.12786","article-title":"National G6PD neonatal screening program in Gaza Strip of Palestine: Rationale, challenges and recommendations","volume":"90","author":"Sirdah","year":"2016","journal-title":"Clin. Genet."},{"key":"ref_1435","first-page":"177","article-title":"Establishment of a cutoff value of phenylalanine for phenylketonuria among West Bank-Palestinian neonates","volume":"13","author":"Ghannam","year":"2020","journal-title":"Jordan J. Biol. Sci."},{"key":"ref_1436","unstructured":"Barakat, M. (2024, February 03). Shortage of PKU Test Materials Threatens Gaza Newborns. Nour Abu Aisha. Available online: https:\/\/www.aa.com.tr\/en\/world\/shortage-of-pku-test-materials-threatens-gaza-newborns\/212333."},{"key":"ref_1437","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1007\/s12687-023-00633-3","article-title":"Interventions addressing genetic disease burdens within selected countries in the MENA region: A scoping review","volume":"14","author":"Grant","year":"2023","journal-title":"J. Community Genet."},{"key":"ref_1438","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1159\/000430837","article-title":"Exploring the effectiveness of mandatory premarital screening and genetic counselling programmes for \u03b2-thalassaemia in the Middle East: A scoping review","volume":"18","author":"Saffi","year":"2015","journal-title":"Public Health Genom."},{"key":"ref_1439","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1111\/j.1365-2257.2006.00792.x","article-title":"\u03b2-Thalassaemia: The Lebanese experience","volume":"28","author":"Inati","year":"2006","journal-title":"Clin. Lab. Haem."},{"key":"ref_1440","doi-asserted-by":"crossref","unstructured":"Rouh AlDeen, N., Osman, A.A., Alhabashi, M.J., Al Khaldi, R., Alawadi, H., Alromh, M.K., Alyafai, E.G., and Akbulut-Jeradi, N. (2021). The prevalence of \u03b2-thalassemia and other hemoglobinopathies in Kuwaiti premarital screening program: An 11-year experience. J. Pers. Med., 11.","DOI":"10.3390\/jpm11100980"},{"key":"ref_1441","doi-asserted-by":"crossref","unstructured":"Al-Shafai, M., Al-Romaihi, A., Al-Hajri, N., Islam, N., and Adawi, K. (2022). Knowledge and Perception of and Attitude toward a Premarital Screening Program in Qatar: A Cross-Sectional Study. Int. J. Environ. Res. Public Health, 19.","DOI":"10.3390\/ijerph19074418"},{"key":"ref_1442","unstructured":"Ahramonline (2023, August 21). Explainer: Egypt\u2019s Pre-Marriage Medical Tests Go into Effect. Available online: https:\/\/english.ahram.org.eg\/News\/489781.aspx."},{"key":"ref_1443","unstructured":"United Nations\u2014Population Division (2023, July 06). World Population Prospects 2022: Summary of Results. Available online: https:\/\/www.un.org\/development\/desa\/pd\/content\/World-Population-Prospects-2022."},{"key":"ref_1444","doi-asserted-by":"crossref","unstructured":"GBD 2021 Sickle Cell Disease Collaborators (2023). Global, Regional, and National Prevalence and Mortality Burden of Sickle Cell Disease, 2000\u20132021: A Systematic Analysis from the Global Burden of Disease Study 2021. Lancet Haematol., 10, e585\u2013e599.","DOI":"10.1016\/S2352-3026(23)00239-9"},{"key":"ref_1445","doi-asserted-by":"crossref","first-page":"e633","DOI":"10.1016\/S2352-3026(23)00096-0","article-title":"Defining global strategies to improve outcomes in sickle cell disease: A Lancet Haematology Commission","volume":"10","author":"Piel","year":"2023","journal-title":"Lancet Haematol."},{"key":"ref_1446","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1136\/jcp.2008.059113","article-title":"Newborn screening for sickle cell disease in the Republic of Benin","volume":"62","author":"Rahimy","year":"2009","journal-title":"J. Clin. Pathol."},{"key":"ref_1447","doi-asserted-by":"crossref","first-page":"S120","DOI":"10.1542\/peds.2007-2022UUU","article-title":"Screening newborns for sickle cell disease in Ghana","volume":"121","author":"Oduro","year":"2008","journal-title":"Pediatrics"},{"key":"ref_1448","doi-asserted-by":"crossref","first-page":"933","DOI":"10.1016\/j.puhe.2007.12.005","article-title":"Neonatal screening and clinical care programmes for sickle cell disorders in sub-Saharan Africa: Lessons from pilot studies","volume":"122","author":"Tshilolo","year":"2008","journal-title":"Public Health"},{"key":"ref_1449","doi-asserted-by":"crossref","unstructured":"Kuznik, A., Habib, A.G., Munube, D., and Lamorde, M. (2016). Newborn screening and prophylactic interventions for sickle cell disease in 47 countries in sub-Saharan Africa: A cost-effectiveness analysis. BMC Health Serv. Res., 16.","DOI":"10.1186\/s12913-016-1572-6"},{"key":"ref_1450","doi-asserted-by":"crossref","first-page":"102","DOI":"10.4172\/2167-7948.1000102","article-title":"Review article on congenital hypothyroidism and newborn screening program in Africa; the present situation and the way forward","volume":"1","author":"Adeniran","year":"2012","journal-title":"J. Thyroid Disord. Ther."},{"key":"ref_1451","first-page":"316","article-title":"Newborn screening in Nigeria: Associating the screening of congenital hypothyroidism and sickle cell disease can be a winning choice?","volume":"90","author":"Yarhere","year":"2019","journal-title":"Acta Biomed."},{"key":"ref_1452","doi-asserted-by":"crossref","first-page":"2225","DOI":"10.4102\/ajlm.v12i1.2225","article-title":"Bridging the gaps in newborn screening programmes: Challenges and opportunities to detect haemoglobinopathies in Africa","volume":"12","author":"Twum","year":"2023","journal-title":"Afr. J. Lab. Med."},{"key":"ref_1453","unstructured":"American Society of Hematology (2023, July 06). Consortium on Newborn Screening in Africa. Available online: https:\/\/www.hematology.org\/global-initiatives\/consortium-on-newborn-screening-in-africa."},{"key":"ref_1454","doi-asserted-by":"crossref","first-page":"6187","DOI":"10.1182\/bloodadvances.2022007698","article-title":"The Consortium on Newborn Screening in Africa for sickle cell disease: Study rationale and methodology","volume":"6","author":"Green","year":"2022","journal-title":"Blood Adv."},{"key":"ref_1455","doi-asserted-by":"crossref","first-page":"802355","DOI":"10.3389\/fgene.2022.802355","article-title":"Establishing a sickle cell disease registry in Africa: Experience from the Sickle Pan-African Research Consortium, Kumasi-Ghana","volume":"13","author":"Paintsil","year":"2022","journal-title":"Front. Genet."},{"key":"ref_1456","doi-asserted-by":"crossref","first-page":"e98","DOI":"10.1016\/S2352-3026(20)30006-5","article-title":"SickleInAfrica","volume":"7","author":"Makani","year":"2020","journal-title":"Lancet Haematol."},{"key":"ref_1457","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1007\/s12687-020-00463-7","article-title":"Empowering newborn screening programs in African countries through establishment of an international collaborative effort","volume":"11","author":"Therrell","year":"2020","journal-title":"J. Community Genet."},{"key":"ref_1458","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1016\/j.bcmd.2019.01.007","article-title":"HemoTypeSC, a low-cost point-of-care testing device for sickle cell disease: Promises and challenges","volume":"78","author":"Nnodu","year":"2019","journal-title":"Blood Cells Mol. Dis."},{"key":"ref_1459","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1016\/j.cca.2019.10.025","article-title":"Emerging point-of-care technologies for sickle cell disease diagnostics","volume":"501","author":"Ilyas","year":"2020","journal-title":"Clin. Chim. Acta"},{"key":"ref_1460","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1111\/bjh.17678","article-title":"Saving lives through early diagnosis: The promise and role of point of care testing for sickle cell disease","volume":"196","author":"Dexter","year":"2022","journal-title":"Br. J. Haematol."},{"key":"ref_1461","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1016\/j.bcmd.2017.08.010","article-title":"The pressing need for point-of-care diagnostics for sickle cell disease: A review of current and future technologies","volume":"67","author":"McGann","year":"2017","journal-title":"Blood Cells Mol. Dis."},{"key":"ref_1462","first-page":"260","article-title":"White paper: Pathways to progress in newborn screening for sickle cell disease in sub-Saharan Africa","volume":"6","author":"Hsu","year":"2018","journal-title":"J. Trop. Dis. Public Health"},{"key":"ref_1463","doi-asserted-by":"crossref","unstructured":"Oron, A.P., Chao, D.L., Ezeanolue, E.E., Ezenwa, L.N., Piel, F.B., Ojogun, O.T., Uyoga, S., Williams, T.N., and Nnodu, O.E. (2020). Caring for Africa\u2019s sickle cell children: Will we rise to the challenge?. BMC Med., 18.","DOI":"10.1186\/s12916-020-01557-2"},{"key":"ref_1464","doi-asserted-by":"crossref","first-page":"e744","DOI":"10.1016\/S2352-3026(21)00191-5","article-title":"Sickle cell disease in sub-Saharan Africa: Transferable strategies for prevention and care","volume":"8","author":"Esoh","year":"2021","journal-title":"Lancet Haematol."},{"key":"ref_1465","doi-asserted-by":"crossref","first-page":"3885979","DOI":"10.1155\/2022\/3885979","article-title":"Sickle cell disease in children and adolescents: A review of the historical, clinical, and public health perspective of sub-Saharan Africa and beyond","volume":"2022","author":"Egesa","year":"2022","journal-title":"Int. J. Pediatr."},{"key":"ref_1466","doi-asserted-by":"crossref","first-page":"e534","DOI":"10.1016\/S2352-3026(20)30143-5","article-title":"Implementing newborn screening for sickle cell disease as part of immunisation programmes in Nigeria: A feasibility study","volume":"7","author":"Nnodu","year":"2020","journal-title":"Lancet Haematol."},{"key":"ref_1467","doi-asserted-by":"crossref","first-page":"e503","DOI":"10.1016\/S2352-3026(20)30180-0","article-title":"Screening infants for sickle cell disease in sub-Saharan Africa: Starting the journey to a sustainable model in primary care","volume":"7","author":"Streetly","year":"2020","journal-title":"Lancet Haematol."},{"key":"ref_1468","doi-asserted-by":"crossref","first-page":"e29137","DOI":"10.1002\/pbc.29137","article-title":"Newborn screening for sickle cell disease in sub-Saharan Africa: Is the glass half-full yet?","volume":"68","author":"Smart","year":"2021","journal-title":"Pediatr. Blood Cancer"},{"key":"ref_1469","unstructured":"World Health Organization, Regional Committee for Africa (2023, July 08). Progress in the Implementation of the African Region Sickle-Cell Strategy 2010\u20132020. Available online: https:\/\/apps.who.int\/iris\/handle\/10665\/92663."},{"key":"ref_1470","doi-asserted-by":"crossref","first-page":"871","DOI":"10.1007\/s10903-021-01186-8","article-title":"The crisis of sickle cell disease in Africa from insights into primary prevention in Ghana and Nigeria: Notes from the field","volume":"23","author":"Ezenwa","year":"2021","journal-title":"J. Immigr. Minor. Health"},{"key":"ref_1471","unstructured":"Maia, M. (2023, July 07). App Will Track Newborns Diagnosed with SCD in 6 African Countries. Sickle Cell Disease News. Available online: https:\/\/sicklecellanemianews.com\/news\/tracking-app-newborns-with-scd-be-introduced-african-countries\/."},{"key":"ref_1472","doi-asserted-by":"crossref","first-page":"e057623","DOI":"10.1136\/bmjopen-2021-057623","article-title":"Enablers and barriers to newborn screening for sickle cell disease in Africa: Results from a qualitative study involving programmes in six countries","volume":"12","author":"Archer","year":"2022","journal-title":"BMJ Open"},{"key":"ref_1473","doi-asserted-by":"crossref","first-page":"e29068","DOI":"10.1002\/pbc.29068","article-title":"Implementing newborn screening for sickle cell disease in Korle Bu Teaching Hospital, Accra: Results and lessons learned","volume":"68","author":"Segbefia","year":"2021","journal-title":"Pediatr. Blood Cancer"},{"key":"ref_1474","doi-asserted-by":"crossref","first-page":"101050","DOI":"10.1016\/j.imu.2022.101050","article-title":"An assessment of traditional and genomic screening in newborns and their applicability for Africa","volume":"32","author":"Wesonga","year":"2022","journal-title":"Inform. Med. Unlocked."},{"key":"ref_1475","unstructured":"Thalassaemia International Federation (2023, July 06). Sickle Cell Disease\u2014African Health Ministers Launch Drive to Curb SCD\u2019s Toll. Available online: https:\/\/thalassaemia.org.cy\/news\/african-health-ministers-launch-drive-to-curb-scd-toll\/."},{"key":"ref_1476","unstructured":"Fondation Pierre Fabre (2023, August 07). African Sickle-Cell Initiative: Advocating for Sickle-Cell Disease to Be Included in the Global Health Agenda. Available online: https:\/\/www.fondationpierrefabre.org\/en\/current-initiatives\/african-sickle-cell-disease-initiative-advocating-for-sickle-cell-disease-to-be-included-in-the-global-health-agenda\/."},{"key":"ref_1477","doi-asserted-by":"crossref","first-page":"984","DOI":"10.1002\/ajh.23578","article-title":"A prospective newborn screening and treatment program for sickle cell anemia in Luanda, Angola","volume":"88","author":"McGann","year":"2013","journal-title":"Am. J. Hematol."},{"key":"ref_1478","doi-asserted-by":"crossref","first-page":"1314","DOI":"10.1016\/j.jpeds.2015.08.068","article-title":"A cost-effectiveness analysis of a pilot neonatal screening program for sickle cell anemia in the Republic of Angola","volume":"167","author":"McGann","year":"2015","journal-title":"J. Pediatr."},{"key":"ref_1479","doi-asserted-by":"crossref","first-page":"45488","DOI":"10.1038\/srep45488","article-title":"A Paper-based test for screening newborns for sickle cell disease","volume":"7","author":"Piety","year":"2017","journal-title":"Sci. Rep."},{"key":"ref_1480","doi-asserted-by":"crossref","first-page":"5300","DOI":"10.1182\/blood-2023-179803","article-title":"Implementation of a newborn screening for sickle cell diseae, at the Hospital Materno Infantil Dr. Manuel Pedro Azancot de Menezes, Angola","volume":"142","author":"Brito","year":"2023","journal-title":"Blood"},{"key":"ref_1481","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1016\/j.htct.2019.06.005","article-title":"Prevalence of hemoglobin abnormalities in an apparently healthy population in Benin","volume":"42","author":"Zohoun","year":"2020","journal-title":"Hematol. Transfus. Cell Ther."},{"key":"ref_1482","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1136\/jcp.2008.058966","article-title":"Neonatal haemoglobinopathy screening in Burkina Faso","volume":"62","author":"Kafando","year":"2009","journal-title":"J. Clin. Pathol."},{"key":"ref_1483","unstructured":"Fondation Pierre Fabre (2023, August 07). Prevention, Diagnosis and Treatment of Sickle Cell Disease\u2014Burkina Faso. Available online: https:\/\/www.fondationpierrefabre.org\/en\/our-programmes\/combatting-sickle-cell-disease\/prevention-diagnosis-treatment-sickle-cell-disease\/."},{"key":"ref_1484","doi-asserted-by":"crossref","first-page":"87","DOI":"10.4236\/ojbd.2022.124009","article-title":"Incidence of sickle cell disease and other hemoglobinopathies in Burkina Faso: Results of a five-year systematic neonatal screening (2015\u20132019) in four urban hospitals","volume":"12","author":"Sawadogo","year":"2022","journal-title":"Open J. Blood Dis."},{"key":"ref_1485","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1258\/096914107782066211","article-title":"Neonatal screening for sickle cell disease in Central Africa: A study of 1825 newborns with a new enzyme-linked immunosorbent assay test","volume":"14","author":"Mutesa","year":"2007","journal-title":"J. Med. Screen."},{"key":"ref_1486","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1159\/000431020","article-title":"Perspectives in genetics and sickle cell disease prevention in Africa: Beyond the preliminary data from Cameroon","volume":"18","author":"Wonkam","year":"2015","journal-title":"Public Health Genom."},{"key":"ref_1487","doi-asserted-by":"crossref","first-page":"287","DOI":"10.4172\/2161-1017.1000287","article-title":"Newborn thyroid stimulating hormone levels in heel prick blood at the Yaounde Gyneco-Obstetric and Paediatric Hospital Cameroon","volume":"7","author":"Adele","year":"2018","journal-title":"Endocrinol. Metab. Syndr."},{"key":"ref_1488","doi-asserted-by":"crossref","first-page":"109","DOI":"10.11604\/pamj.2020.37.109.17864","article-title":"Distribution of haemoglobin genotypes, knowledge, attitude and practices towards sickle cell disease among unmarried youths in the Buea Health District, Cameroon","volume":"37","author":"Ngwengi","year":"2020","journal-title":"Pan Afr. Med. J."},{"key":"ref_1489","unstructured":"Fondation Pierre Fabre (2023, August 07). Supporting the Fight against Sickle Cell Disease in Sub-Saharan Africa. Available online: https:\/\/www.fondationpierrefabre.org\/en\/our-programmes\/combatting-sickle-cell-disease\/supporting-the-fight-against-sickle-cell-disease-in-sub-saharan-africa\/."},{"key":"ref_1490","unstructured":"Fondation Pierre Fabre (2023, August 07). Support for the Sickle Cell Research and Treatment Centre (CRTD). Available online: https:\/\/www.fondationpierrefabre.org\/en\/our-programmes\/combatting-sickle-cell-disease\/support-for-the-sickle-cell-research-and-treatment-centre-crtd\/."},{"key":"ref_1491","unstructured":"Fondation Pierre Fabre (2023, August 07). The Fight against Sickle Cell Disease in Central African Republic Is Moving Forward!. Available online: https:\/\/www.fondationpierrefabre.org\/en\/current-initiatives\/the-fight-against-sickle-cell-disease-in-the-central-african-republic-is-moving-forward\/."},{"key":"ref_1492","doi-asserted-by":"crossref","first-page":"84","DOI":"10.5334\/aogh.3100","article-title":"An overview of the healthcare systems in Comoros: The effects of two decades of political instability","volume":"87","author":"Mohamed","year":"2021","journal-title":"Ann. Glob. Health"},{"key":"ref_1493","doi-asserted-by":"crossref","first-page":"264","DOI":"10.1038\/sj.thj.6200042","article-title":"Molecular basis of haemoglobinopathies and G6PD deficiency in the Comorian population","volume":"1","author":"Badens","year":"2000","journal-title":"Hematol. J."},{"key":"ref_1494","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1136\/jcp.2008.058958","article-title":"Neonatal screening for sickle cell anaemia in the Democratic Republic of the Congo: Experience from a pioneer project on 31 204 newborns","volume":"62","author":"Tshilolo","year":"2009","journal-title":"J. Clin. Pathol."},{"key":"ref_1495","doi-asserted-by":"crossref","unstructured":"Katamea, T., Mukuku, O., Mpoy, C.W., Mutombo, A.K., Luboya, O.N., and Wembonyama, S.O. (2022). Factors associated with acceptability of newborn screening for sickle cell disease in Lubumbashi City, Democratic Republic of the Congo. Glob. J. Med. Pharm. Biomed. Update, 17.","DOI":"10.25259\/GJMPBU_7_2022"},{"key":"ref_1496","first-page":"56","article-title":"Newborn screening for sickle cell disease in Butembo and Beni: A pilot experience in a highland region of the Democratic Republic of Congo","volume":"45","author":"Mumbere","year":"2023","journal-title":"Pan. Afr. Med. J."},{"key":"ref_1497","first-page":"e7097","article-title":"Neonatal screening for sickle cell disease in urban areas with limited resources: Case of Kindu City, East of the Democratic Republic of Congo","volume":"8","author":"Katawandja","year":"2021","journal-title":"Open Access Libr. J."},{"key":"ref_1498","doi-asserted-by":"crossref","first-page":"12","DOI":"10.4236\/ojbd.2020.101002","article-title":"Systematic screening of neonatal sickle cell disease with HemoTypeSCTM Kit-test: Case study and literature review","volume":"10","author":"Kasai","year":"2020","journal-title":"Open J. Blood Dis."},{"key":"ref_1499","doi-asserted-by":"crossref","first-page":"853","DOI":"10.1080\/16078454.2022.2107351","article-title":"Pairing parents and offspring\u2019s HemoTypeSCTM test to validate results and confirm sickle cell pedigree: A case study in Kisangani, the Democratic Republic of the Congo","volume":"27","author":"Kasai","year":"2022","journal-title":"Hematology"},{"key":"ref_1500","first-page":"134","article-title":"D\u00e9pistage hospitalier de la dr\u00e9panocytose en R\u00e9publique D\u00e9mocratique du Congo (RDC) par HemoTypeSC: Cas de la ville de Kindu [HemoTypeSC screening for sickle cell disease in the Democratic Republic of Congo (DRC): A case from the city of Kindu]","volume":"41","author":"Etienne","year":"2022","journal-title":"Pan. Afr. Med. J."},{"key":"ref_1501","doi-asserted-by":"crossref","first-page":"2213043","DOI":"10.1080\/16078454.2023.2213043","article-title":"Newborn screening for sickle cell disease in Kisangani, Democratic Republic of the Congo: An update","volume":"28","author":"Kasai","year":"2023","journal-title":"Hematology"},{"key":"ref_1502","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1080\/16078454.2021.2023399","article-title":"Overview of current progress and challenges in diagnosis, and management of pediatric sickle cell disease in Democratic Republic of the Congo","volume":"27","author":"Kasai","year":"2022","journal-title":"Hematology"},{"key":"ref_1503","doi-asserted-by":"crossref","first-page":"9970315","DOI":"10.1155\/2022\/9970315","article-title":"Neonatal screening for sickle cell disease in Congo","volume":"2022","author":"Dokekias","year":"2022","journal-title":"Anemia"},{"key":"ref_1504","first-page":"8862039","article-title":"Feasibility study of the \u201cHemoTypeSC\u201d Test for the rapid screening of sickle cell disease in C\u00f4te D\u2019Ivoire","volume":"2021","year":"2021","journal-title":"Adv. Hematol."},{"key":"ref_1505","doi-asserted-by":"crossref","unstructured":"Lin, M., Yang, L.Y., Xie, D.D., Chen, J.T., Nguba, S.M., Ehapo, C.S., Zhan, X.F., Eyi, J.U., Matesa, R.A., and Obono, M.M. (2015). G6PD deficiency and hemoglobinopathies: Molecular epidemiological characteristics and healthy effects on malaria endemic Bioko Island, Equatorial Guinea. PLoS ONE, 10.","DOI":"10.1371\/journal.pone.0123991"},{"key":"ref_1506","doi-asserted-by":"crossref","first-page":"e235","DOI":"10.1097\/INF.0000000000002734","article-title":"Birth testing for infant HIV diagnosis in Eswatini: Implementation experience and uptake among women living with HIV in Manzini Region","volume":"39","author":"Teasdale","year":"2020","journal-title":"Pediatr. Infect. Dis. J."},{"key":"ref_1507","unstructured":"Tarekegn, B.G. Personal communication."},{"key":"ref_1508","first-page":"377","article-title":"Neonatal congenital hypothyroidism screening in Addis Ababa, Ethiopia","volume":"77","author":"Feleke","year":"2000","journal-title":"East Afr. Med. J."},{"key":"ref_1509","first-page":"72","article-title":"Acceptability of neonatal sickle cell disease screening among parturient women at the Paul Moukambi Regional Hospital in rural Eastern Gabon, Central Africa","volume":"25","author":"Mombo","year":"2021","journal-title":"Af. J. Reprod. Health"},{"key":"ref_1510","unstructured":"Loembet, L.M.D., Mezui-me-ndong, J., Mboro, T.M., Sicas, L., Feudjo, M., Bisvigou, U., Koko, J., Ducrocq, R., and Gonzalez, J.-P. (2022). Neonatal screening of sickle cell disease in Gabon: A nationwide study. J. Neonatal Biol., 11."},{"key":"ref_1511","unstructured":"Wikipedia (2023, July 26). Kwaku Ohene-Frempong. Available online: https:\/\/en.wikipedia.org\/wiki\/Kwaku_Ohene-Frempong."},{"key":"ref_1512","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1002\/ajh.25305","article-title":"Point-of-care screening for sickle cell disease in low-resource settings: A multi-center evaluation of HekimoTypeSC, a novel rapid test","volume":"94","author":"Steele","year":"2019","journal-title":"Am. J. Hematol."},{"key":"ref_1513","doi-asserted-by":"crossref","first-page":"e11778","DOI":"10.1016\/j.heliyon.2022.e11778","article-title":"Multispectral imaging for microchip electrophoresis enables point-of-care newborn hemoglobin variant screening","volume":"8","author":"An","year":"2022","journal-title":"Heliyon"},{"key":"ref_1514","doi-asserted-by":"crossref","unstructured":"Sims, A.M., Bonsu, K.O., Urbonya, R., Farooq, F., Tavernier, F., Yamamoto, M., VanOmen, S., Halford, B., Gorodinsky, P., and Issaka, R. (2021). Diagnosis patterns of sickle cell disease in Ghana: A secondary analysis. BMC Public Health, 21.","DOI":"10.1186\/s12889-021-11794-6"},{"key":"ref_1515","unstructured":"Pfizer (2023, July 27). Pfizer 2019 Annual Review: Partnering to Uncover Sickle Cell Disease in Sub-Saharan Africa. Available online: https:\/\/www.pfizer.com\/sites\/default\/files\/investors\/financial_reports\/annual_reports\/2019\/our-bold-moves\/lead-the-conversation\/partnering-to-uncover-sickle-cell-disease-in-sub-saharan-africa\/index.html."},{"key":"ref_1516","unstructured":"(2023, July 26). Clinton Health Access Initiative. Ghana Sickle Cell Disease Program Screens Over 24,000 Infants. Available online: https:\/\/www.clintonhealthaccess.org\/blog\/sickle-cell-disease-program-in-ghana-screens-over-24000-infants\/."},{"key":"ref_1517","doi-asserted-by":"crossref","first-page":"25","DOI":"10.3109\/03630269.2011.600491","article-title":"High prevalence of hemoglobin disorders and glucose-6-phosphate dehydrogenase (G6PD) deficiency in the Republic of Guinea (West Africa)","volume":"36","author":"Millimono","year":"2012","journal-title":"Hemoglobin"},{"key":"ref_1518","unstructured":"Fondation Pierre Fabre (2023, August 07). Haemophilia and Sickle Cell Disease: Increasing Our Impact Together in Guinea. Available online: https:\/\/www.fondationpierrefabre.org\/en\/combating-sickle-cell-disease\/haemophilia-and-sickle-cell-disease-increasing-our-impact-together-in-guinea\/."},{"key":"ref_1519","doi-asserted-by":"crossref","first-page":"4715","DOI":"10.1182\/blood-2018-99-119006","article-title":"Successful simultaneous screening of sickle cell disease, HIV and tuberculosis in rural Guinea Bissau, West Africa through rapid tests and a standardized clinical questionnaire: An outreach program due to a public-private partnership","volume":"132","author":"Menzato","year":"2018","journal-title":"Blood"},{"key":"ref_1520","doi-asserted-by":"crossref","first-page":"826262","DOI":"10.3389\/fped.2022.826262","article-title":"Distribution of HbS allele and haplotypes in a multiethnic population of Guinea Bissau, West Africa: Implications for public health screening","volume":"10","author":"Martella","year":"2022","journal-title":"Front. Pediatr."},{"key":"ref_1521","first-page":"2419","article-title":"Newborn screening for sickle cell disease at Kisumu County Hospital, Kisumu\u2014Kenya","volume":"96","author":"Kuta","year":"2019","journal-title":"East Afr. Med. J."},{"key":"ref_1522","unstructured":"Korir, R.K. (2020, January 16\u201317). Newborn Screening Program for Sickle Cell Disease in Western Kenya. Proceedings of the 18th World Hematology Congress, London, UK. Available online: https:\/\/hematology.insightconferences.com\/abstract\/2020\/newborn-screening-program-for-sickle-cell-disease-in-western-kenya."},{"key":"ref_1523","unstructured":"Science Africa (2023, August 01). Kenya: Kisumu Launches Newborn Sickle Cell Screening Centre. Available online: https:\/\/news.scienceafrica.co.ke\/kenya-kisumu-launches-newborn-sickle-cell-screening-centre\/."},{"key":"ref_1524","unstructured":"Quest Laboratories (2023, July 27). Newborn Screening. Available online: https:\/\/questlabs-kenya.com\/newborn-screening\/."},{"key":"ref_1525","unstructured":"ibs (Kenya Institute of Biological Sciences) (2023, July 27). Newborn Screening. Available online: https:\/\/www.kibs.co.ke\/services\/postnatal-genetic-testing-Kenya.php."},{"key":"ref_1526","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1002\/pbc.25875","article-title":"Newborn screening for sickle cell disease in Liberia: A pilot study","volume":"63","author":"Tubman","year":"2016","journal-title":"Pediatr. Blood Cancer"},{"key":"ref_1527","doi-asserted-by":"crossref","unstructured":"Udhayashankar, K., Franklin, P.D., Nuta, C.J., Cherue, A.K., Haq, H., Thompson, D., and Tubman, V.N. (2023). Determinants of retention in care of newborns diagnosed with sickle cell disease in Liberia: Results from a mixed-methods study of caregivers. PLoS Glob. Public Health, 3.","DOI":"10.1371\/journal.pgph.0001705"},{"key":"ref_1528","unstructured":"Business Insider Africa (2023, August 03). Liberia: Ministry of Health, Consortium on Newborn Screening in Africa (CONSA) Launch Newborn Screening for Sickle Cell Disease in Liberia. Available online: https:\/\/africa.businessinsider.com\/apo\/liberia-ministry-of-health-consortium-on-newborn-screening-in-africa-consa-launch\/c3w7gy7."},{"key":"ref_1529","doi-asserted-by":"crossref","first-page":"629338","DOI":"10.3389\/ijph.2021.629338","article-title":"Prospective newborn screening for sickle cell disease and other inherited blood disorders in Central Malawi","volume":"66","author":"Tegha","year":"2021","journal-title":"Int. J. Public Health"},{"key":"ref_1530","doi-asserted-by":"crossref","first-page":"796","DOI":"10.1182\/blood-2023-188095","article-title":"Systematic, point-of-care newborn screening and treatment for sickle cell disease in rural Mali, West Africa: Results from an ongoing implementation project","volume":"142","author":"Anderson","year":"2023","journal-title":"Blood"},{"key":"ref_1531","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1111\/bjh.19108","article-title":"Potential for a large-scale newborn screening strategy for sickle cell disease in Mali: A comparative diagnostic performance study of two rapid diagnostic tests (SickleScan\u00ae and HemotypeSC\u00ae) on cord blood","volume":"204","author":"Guindo","year":"2024","journal-title":"Br. J. Haematol."},{"key":"ref_1532","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1016\/j.respe.2018.02.007","article-title":"D\u00e9pistage n\u00e9onatal cibl\u00e9 de la dr\u00e9panocytose: Limites du test de falciformation (test d\u2019Emmel) dans le bilan pr\u00e9natal en zone ouest africaine [Targeted newborn screening for sickle-cell anemia: Sickling test (Emmel test) boundaries in the prenatal assessment in West African area]","volume":"66","author":"Diallo","year":"2018","journal-title":"Rev. Epidemiol. Sante Publique"},{"key":"ref_1533","unstructured":"Fondation Pierre Fabre (2023, August 07). Creating and Developing the Research Centre to Combat Sickle Cell Disease. Available online: https:\/\/www.fondationpierrefabre.org\/en\/our-programmes\/combatting-sickle-cell-disease\/creating-developing-research-centre-sickle-cell-disease\/."},{"key":"ref_1534","doi-asserted-by":"crossref","first-page":"224","DOI":"10.11604\/pamj.2018.30.224.13947","article-title":"D\u00e9pistage n\u00e9onatal du d\u00e9ficit en glucose 6 phosphate d\u00e9shydrog\u00e9nase (G6PD) en Mauritanie [Neonatal screening for glucose-6-phosphate dehydrogenase (G6PD) deficiency in Mauritania]","volume":"30","author":"Mohamed","year":"2018","journal-title":"Pan Afr. Med. J."},{"key":"ref_1535","doi-asserted-by":"crossref","unstructured":"Djigo, O.K.M., Ould Ahmedou Salem, M.S., Diallo, S.M., Bollahi, M.A., Boushab, B.M., Garre, A., Papa Mze, N., Basco, L., Briolant, S., and Ould Mohamed Salem Boukhary, A. (2021). Molecular epidemiology of G6PD genotypes in different ethnic groups residing in Saharan and Sahelian Zones of Mauritania. Pathogens, 10.","DOI":"10.3390\/pathogens10080931"},{"key":"ref_1536","first-page":"313","article-title":"Sickle cell disease in Mauritania: Epidemiological, clinical and therapeutic aspects about 135 cases","volume":"100","author":"Cheikh","year":"2022","journal-title":"Tunis. Med."},{"key":"ref_1537","doi-asserted-by":"crossref","unstructured":"Mano, R.M., Kuona, P., and Misihairabgwi, J.M. (2024, January 10). Determination of Birth Prevalence of Sickle Cell Disease Using Point of Care Test HemoTypeSCTM at Rundu Hospital, Namibia. Research Square. Available online: https:\/\/www.researchsquare.com\/article\/rs-3753291\/v1.","DOI":"10.1186\/s12887-024-04805-z"},{"key":"ref_1538","first-page":"e2354","article-title":"A multi-centre survey of acceptability of newborn screening for sickle cell disease in Nigeria","volume":"10","author":"Nnodu","year":"2018","journal-title":"Cureus"},{"key":"ref_1539","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1080\/17474086.2019.1631155","article-title":"Current perspectives of sickle cell disease in Nigeria: Changing the narratives","volume":"12","author":"Ojewunmi","year":"2019","journal-title":"Expert Rev. Hematol."},{"key":"ref_1540","first-page":"603","article-title":"Cord blood thyroid stimulating hormone values in healthy term babies delivered at Abubakar Tafawa Balewa University Teaching Hospital Bauchi, Northeastern Nigeria","volume":"39","author":"Bashir","year":"2022","journal-title":"West Afr. J. Med."},{"key":"ref_1541","first-page":"398","article-title":"Newborn screening for sickle cell disease (SCD) in Awka South-East Nigeria","volume":"9","author":"Ejiofor","year":"2018","journal-title":"J. Blood Disord. Transfus."},{"key":"ref_1542","doi-asserted-by":"crossref","unstructured":"Oluwole, E.O., Adeyemo, T.A., Osanyin, G.E., Odukoya, O.O., Kanki, P.J., and Afolabi, B.B. (2020). Feasibility and acceptability of early infant screening for sickle cell disease in Lagos, Nigeria-A pilot study. PLoS ONE, 15.","DOI":"10.1371\/journal.pone.0242861"},{"key":"ref_1543","doi-asserted-by":"crossref","first-page":"190","DOI":"10.4103\/npmj.npmj_39_20","article-title":"Pattern of haemoglobin phenotypes in newborn infants at the National Hospital Abuja using high performance liquid chromatography","volume":"27","author":"Audu","year":"2020","journal-title":"Niger Postgrad. Med. J."},{"key":"ref_1544","doi-asserted-by":"crossref","unstructured":"Ezenwosu, O.U., Itanyi, I.U., Nnodu, O.E., Ogidi, A.G., Mgbeahurike, F., and Ezeanolue, E.E. (2021). Community based screening for sickle haemoglobin among pregnant women in Benue State, Nigeria: I-Care-to-Know, A Healthy Beginning initiative. BMC Pregnancy Childbirth, 21.","DOI":"10.1186\/s12884-021-03974-4"},{"key":"ref_1545","doi-asserted-by":"crossref","first-page":"e2019062","DOI":"10.29392\/joghr.3.e2019062","article-title":"Knowledge and health beliefs assessment of Sickle cell disease as a prelude to neonatal screening in Ibadan, Nigeria","volume":"3","author":"Babalola","year":"2019","journal-title":"J. Glob. Health Rep."},{"key":"ref_1546","unstructured":"Ijei-Enesi, I., Dogara, L., and Inusa, P.B. (2023, July 07). Implementing a Newborn Screening Programme: Our Experience in Kaduna State, Nigeria. Annual Report 2021\u20132022. The Royal College of Pathologists. Available online: https:\/\/www.rcpath.org\/profession\/publications\/annual-reports\/annual-report-2021-2022\/implementing-a-newborn-screening-programme-our-experience-in-kaduna-state-nigeria.html."},{"key":"ref_1547","doi-asserted-by":"crossref","first-page":"1013858","DOI":"10.3389\/fgene.2022.1013858","article-title":"Using dried blood spot on HemoTypeSC\u2122, a new frontier for newborn screening for sickle cell disease in Nigeria","volume":"13","author":"Okeke","year":"2022","journal-title":"Front. Genet."},{"key":"ref_1548","doi-asserted-by":"crossref","first-page":"e476","DOI":"10.1016\/S2352-3026(21)00166-6","article-title":"Newborn screening for sickle cell disease in Africa","volume":"8","author":"Makoni","year":"2021","journal-title":"Lancet Haematol."},{"key":"ref_1549","first-page":"537","article-title":"Newborn screening for haemoglobinopathies in Bida, North-Central Nigeria","volume":"11","author":"Folayan","year":"2023","journal-title":"J. Hematol. Thrombo. Dis."},{"key":"ref_1550","first-page":"298","article-title":"Acceptability of newborn screening for sickle cell disease among post-partum mothers in Abakaliki, South-East Nigeria","volume":"40","author":"Nnachi","year":"2023","journal-title":"West Afr. J. Med."},{"key":"ref_1551","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1258\/096914106778440626","article-title":"Red blood cell disorders in Rwandese neonates: Screening for sickle cell disease and glucose-6-phosphate dehydrogenase deficiency","volume":"13","author":"Munyanganizi","year":"2006","journal-title":"J. Med. Screen."},{"key":"ref_1552","first-page":"202","article-title":"D\u00e9pistage n\u00e9onatal de la dr\u00e9panocytose au CHU de Dakar: Premier bilan [Sickle cell disease neonatal screening. First evaluation]","volume":"48","author":"Mbodj","year":"2003","journal-title":"Dakar Med."},{"key":"ref_1553","first-page":"95","article-title":"Towards an Information System for Sickle Cell Neonatal Screening in Senegal","volume":"258","author":"Diallo","year":"2019","journal-title":"Stud. Health Technol. Inform."},{"key":"ref_1554","first-page":"611","article-title":"SIMENS-LIS4SC, a laboratory information system for biological tests of sickle cell screening and healthcare","volume":"264","author":"Diallo","year":"2019","journal-title":"Stud. Health Technol. Inform."},{"key":"ref_1555","first-page":"71","article-title":"Iconic visualization of sickle cell patients current and past health status","volume":"272","author":"Diallo","year":"2020","journal-title":"Stud. Health Technol. Inform."},{"key":"ref_1556","unstructured":"Fondation Pierre Fabre (2023, August 07). Operational Study on Early Detection and Treatment of Sickle Cell Disease. Available online: https:\/\/www.fondationpierrefabre.org\/en\/our-programmes\/combatting-sickle-cell-disease\/operational-study-early-detection-treatment-sickle-cell-disease\/."},{"key":"ref_1557","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1016\/j.neuro.2020.09.010","article-title":"Health in Seychelles\u2014An overview","volume":"81","author":"Shamlaye","year":"2020","journal-title":"Neurotoxicology"},{"key":"ref_1558","unstructured":"(2023, August 03). Seychelles News Agency. Karapetyan, S. Babies Born in Seychelles to Undergo Screenings for More Health Conditions. Available online: http:\/\/www.seychellesnewsagency.com\/articles\/14322\/Babies+born+in+Seychelles+to+undergo+screenings+for+more+health+conditions."},{"key":"ref_1559","doi-asserted-by":"crossref","first-page":"e708","DOI":"10.1016\/S2352-3026(20)30280-5","article-title":"Communicating sickle cell disease point-of-care testing results","volume":"7","author":"Gibson","year":"2020","journal-title":"Lancet Haematol."},{"key":"ref_1560","unstructured":"allAfrica (2023, August 03). Sierra Leone: Today Is World Sickle Cell Day\u2014Call to Implement Screening of Newborn. Concord Times (Freetown). Available online: https:\/\/allafrica.com\/stories\/202306230113.html."},{"key":"ref_1561","first-page":"339","article-title":"Neonatal screening for congenital hypothyroidism. A decade\u2019s review, including South Africa","volume":"73","author":"Bernstein","year":"1988","journal-title":"S. Afr. Med. J."},{"key":"ref_1562","first-page":"33","article-title":"Phenylketonuria in South Africa. A report on the status quo","volume":"85","author":"Hitzeroth","year":"1995","journal-title":"S. Afr. Med. J."},{"key":"ref_1563","first-page":"106","article-title":"Screening for congenital hypothyroidism in South Africa. Report on a national workshop (1992)","volume":"84","author":"Hitzeroth","year":"1994","journal-title":"S. Afr. Med. J."},{"key":"ref_1564","first-page":"19","article-title":"Newborn screening for classic galactosemia and primary congenital hypothyroidism in the Nkangala district of the Mpumalanga province of South Africa","volume":"2","author":"Lebea","year":"2008","journal-title":"S. Afr. J. Child Health"},{"key":"ref_1565","doi-asserted-by":"crossref","first-page":"186","DOI":"10.7196\/SAMJ.9136","article-title":"Need for services for the care and prevention of congenital disorders in South Africa as the country\u2019s epidemiological transition evolves","volume":"105","author":"Malherbe","year":"2015","journal-title":"S. Afr. Med. J."},{"key":"ref_1566","unstructured":"Next Biosciences (2023, August 03). FirstScreen\u2014Newborn Screening [NBS] of Babies 1\u20133 Days after Birth for Early Detection of Metabolic Disorders to Allow for Prompt Intervention and Treatment. Available online: https:\/\/nextbio.co.za\/divisions\/patients\/genetics\/firstscreen."},{"key":"ref_1567","unstructured":"NWU (2023, August 03). Centre for Human Metabolomics: NBS (Newborn Screening). Available online: https:\/\/natural-sciences.nwu.ac.za\/centre-human-metabolomics\/nbs-newborn-screening."},{"key":"ref_1568","unstructured":"NWU (2023, August 03). News@NWU: Screening at Birth Can Spare Babies and Parents Much Pain. Available online: https:\/\/news.nwu.ac.za\/screening-birth-can-spare-babies-and-parents-much-pain."},{"key":"ref_1569","doi-asserted-by":"crossref","first-page":"7","DOI":"10.20517\/rdodj.2023.49","article-title":"Newborn screening in South Africa: The past, present and plans for the future","volume":"3","author":"Malherbe","year":"2024","journal-title":"Rare Dis. Orphan Drugs J."},{"key":"ref_1570","first-page":"7","article-title":"Overview of diagnosis, management and outcome of congenital hypothyroidism: A call for a national screening programme in Sudan","volume":"12","author":"Babiker","year":"2012","journal-title":"Sudan J. Paediatr."},{"key":"ref_1571","doi-asserted-by":"crossref","first-page":"642","DOI":"10.1111\/tmi.12689","article-title":"Sickle cell disease in western Sudan: Genetic epidemiology and predictors of knowledge attitude and practices","volume":"21","author":"Daak","year":"2016","journal-title":"Trop. Med. Int. Health"},{"key":"ref_1572","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1093\/inthealth\/ihz028","article-title":"Newborn screening for sickle cell disease: An innovative pilot program to improve child survival in Dar es Salaam, Tanzania","volume":"11","author":"Nkya","year":"2019","journal-title":"Int. Health"},{"key":"ref_1573","doi-asserted-by":"crossref","first-page":"79","DOI":"10.4314\/tmj.v31i2.405","article-title":"Newborn Screening for Sickle Cell Disease in Tanzania: The Past, Present and Future","volume":"31","author":"Luoga","year":"2020","journal-title":"Tanzania Med. J."},{"key":"ref_1574","doi-asserted-by":"crossref","first-page":"859","DOI":"10.2471\/BLT.20.253583","article-title":"Surveillance for sickle cell disease, United Republic of Tanzania","volume":"98","author":"Ambrose","year":"2020","journal-title":"Bull. World Health Organ."},{"key":"ref_1575","doi-asserted-by":"crossref","first-page":"e28620","DOI":"10.1002\/pbc.28620","article-title":"Extremely high birth prevalence of sickle cell disease in rural Tanzania","volume":"67","author":"Eastburg","year":"2020","journal-title":"Pediatr. Blood Cancer"},{"key":"ref_1576","doi-asserted-by":"crossref","unstructured":"Bukini, D., Nkya, S., McCurdy, S., Mbekenga, C., Manji, K., Parker, M., and Makani, J. (2021). Perspectives on building sustainable newborn screening programs for sickle cell disease: Experience from Tanzania. Int. J. Neonatal Screen., 7.","DOI":"10.3390\/ijns7010012"},{"key":"ref_1577","doi-asserted-by":"crossref","first-page":"959","DOI":"10.1111\/ijlh.13929","article-title":"Potential of point of care tests for newborn screening for sickle cell disease: Evaluation of HemotypeSC\u2122 and sickle SCAN\u00ae in Tanzania","volume":"44","author":"Christopher","year":"2022","journal-title":"Int. J. Lab. Hematol."},{"key":"ref_1578","doi-asserted-by":"crossref","unstructured":"Marco, E., Makani, J., Ruggajo, P., Kidenya, B.R., Minja, I.K., and Balandya, E. (2023). The efficacy of maternal health education and maternal screening on knowledge and the uptake of infant screening for sickle cell disease in Dar-Es-Salaam, Tanzania; a quasi-experimental study. BMC Public Health, 23.","DOI":"10.1186\/s12889-022-14859-2"},{"key":"ref_1579","doi-asserted-by":"crossref","unstructured":"Sazawal, S., Ryckman, K.K., Das, S., Khanam, R., Nisar, I., Jasper, E., Dutta, A., Rahman, S., Mehmood, U., and Bedell, B. (2021). Machine learning guided postnatal gestational age assessment using new-born screening metabolomic data in South Asia and sub-Saharan Africa. BMC Pregnancy Childbirth, 21.","DOI":"10.1186\/s12884-021-04067-y"},{"key":"ref_1580","doi-asserted-by":"crossref","first-page":"e2029655","DOI":"10.1001\/jamanetworkopen.2020.29655","article-title":"Multiomics characterization of preterm birth in low- and middle-income countries","volume":"3","author":"Jehan","year":"2020","journal-title":"JAMA Netw. Open"},{"key":"ref_1581","doi-asserted-by":"crossref","first-page":"e195","DOI":"10.1016\/S2214-109X(15)00288-0","article-title":"Burden of sickle cell trait and disease in the Uganda Sickle Surveillance Study (US3): A cross-sectional study","volume":"4","author":"Ndeezi","year":"2016","journal-title":"Lancet Glob. Health"},{"key":"ref_1582","doi-asserted-by":"crossref","first-page":"e27807","DOI":"10.1002\/pbc.27807","article-title":"Sickle cell screening in Uganda: High burden, human immunodeficiency virus comorbidity, and genetic modifiers","volume":"66","author":"Kiyaga","year":"2019","journal-title":"Pediatr. Blood Cancer"},{"key":"ref_1583","doi-asserted-by":"crossref","first-page":"1303","DOI":"10.4102\/ajlm.v10i1.1303","article-title":"Operational analysis of the national sickle cell screening programme in the Republic of Uganda","volume":"10","author":"Hernandez","year":"2021","journal-title":"Afr. J. Lab. Med."},{"key":"ref_1584","doi-asserted-by":"crossref","first-page":"59","DOI":"10.2147\/JBM.S186528","article-title":"Cost for sickle cell disease screening using isoelectric focusing with dried blood spot samples and estimation of price thresholds for a point-of-care test in Uganda","volume":"10","author":"Lim","year":"2019","journal-title":"J. Blood Med."},{"key":"ref_1585","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1111\/tmi.13506","article-title":"Trends in sickle cell trait and disease screening in the Republic of Uganda, 2014\u20132019","volume":"26","author":"Hernandez","year":"2021","journal-title":"Trop. Med. Int. Health"},{"key":"ref_1586","doi-asserted-by":"crossref","first-page":"04012","DOI":"10.7189\/jogh.11.04012","article-title":"Gestational age dating using newborn metabolic screening: A validation study in Busia, Uganda","volume":"11","author":"Oltman","year":"2021","journal-title":"J. Glob. Health"},{"key":"ref_1587","doi-asserted-by":"crossref","first-page":"e593","DOI":"10.1097\/MPH.0000000000001800","article-title":"Parental notification via text messaging for infant sickle screening programs: Exploration of feasibility and acceptability in Uganda","volume":"42","author":"Fashakin","year":"2020","journal-title":"J. Pediatr. Hematol. Oncol."},{"key":"ref_1588","first-page":"2","article-title":"Sickle cell disease\u2014Getting the act right","volume":"3","author":"Mantina","year":"2019","journal-title":"Health Press Zambia Bull."},{"key":"ref_1589","unstructured":"(2023, August 05). TrendsNAfrica. News Desk. Zambian Government Intensifies Screening for Sickle Cell Disease. Available online: https:\/\/trendsnafrica.com\/zambian-government-intensifies-screening-for-sickle-cell-disease\/."},{"key":"ref_1590","doi-asserted-by":"crossref","first-page":"e000365","DOI":"10.1136\/bmjgh-2017-000365","article-title":"Postnatal gestational age estimation using newborn screening blood spots: A proposed validation protocol","volume":"2","author":"Murphy","year":"2017","journal-title":"BMJ Glob. 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