{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T18:20:39Z","timestamp":1781115639229,"version":"3.54.1"},"reference-count":50,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2024,12,16]],"date-time":"2024-12-16T00:00:00Z","timestamp":1734307200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.mdpi.com"],"crossmark-restriction":true},"short-container-title":["IJNS"],"abstract":"<jats:p>In The Netherlands, newborn screening (NBS) for tyrosinemia type 1 (TT1) uses dried blood spot (DBS) succinylacetone (SUAC) as a biomarker. However, high false-positive (FP) rates and a false-negative (FN) case show that the Dutch TT1 NBS protocol is suboptimal. In search of optimization options, we evaluated the protocols used by other NBS programs and their performance. We distributed an online survey to NBS program representatives worldwide (N = 41). Questions focused on the organization and performance of the programs and on changes since implementation. Thirty-three representatives completed the survey. TT1 incidence ranged from 1\/13,636 to 1\/750,000. Most NBS samples are taken between 36 and 72 h after birth. Most used biomarkers were DBS SUAC (78.9%), DBS Tyrosine (Tyr; 5.3%), or DBS Tyr with second tier SUAC (15.8%). The pooled median cut-off for SUAC was 1.50 \u00b5mol\/L (range 0.3\u20137.0 \u00b5mol\/L). The median cut-off from programs using laboratory-developed tests was significantly higher (2.63 \u00b5mol\/L) than the medians from programs using commercial kits (range 1.0\u20131.7 \u00b5mol\/L). The pooled median cut-off for Tyr was 216 \u00b5mol\/L (range 120\u2013600 \u00b5mol\/L). Overall positive predictive values were 25.9% for SUAC, 1.2% for Tyr solely, and 90.1% for Tyr + SUAC. One FN result was reported for TT1 NBS using SUAC, while three FN results were reported for TT1 NBS using Tyr. The NBS programs for TT1 vary worldwide in terms of analytical methods, biochemical markers, and cut-off values. There is room for improvement through method standardization, cut-off adaptation, and integration of new biomarkers. Further enhancement is likely to be achieved by the application of post-analytical tools.<\/jats:p>","DOI":"10.3390\/ijns10040082","type":"journal-article","created":{"date-parts":[[2024,12,17]],"date-time":"2024-12-17T05:26:02Z","timestamp":1734413162000},"page":"82","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Evaluation of Neonatal Screening Programs for Tyrosinemia Type 1 Worldwide"],"prefix":"10.3390","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1947-5949","authenticated-orcid":false,"given":"Allysa","family":"Kuypers","sequence":"first","affiliation":[{"name":"Section of Metabolic Diseases, Beatrix Children\u2019s Hospital, University Medical Center Groningen, University of Groningen, 9700 RB Groningen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7699-4887","authenticated-orcid":false,"given":"Marelle","family":"Bouva","sequence":"additional","affiliation":[{"name":"Centre for Health Protection, National Institute for Public Health and the Environment (RIVM), 3720 BA Bilthoven, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Loeber","sequence":"additional","affiliation":[{"name":"International Society for Neonatal Screening (ISNS) Office, 3721 CK Bilthoven, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4994-2918","authenticated-orcid":false,"given":"Anita","family":"Boelen","sequence":"additional","affiliation":[{"name":"Endocrine Laboratory, Department of Clinical Chemistry, Amsterdam Gastroenterology, Endocrinology & Metabolism, Amsterdam UMC, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eugenie","family":"Dekkers","sequence":"additional","affiliation":[{"name":"Centre for Population Research, National Institute for Public Health and the Environment (RIVM), 3720 BA Bilthoven, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8660-8532","authenticated-orcid":false,"given":"Konstantinos","family":"Petritis","sequence":"additional","affiliation":[{"name":"Newborn Screening and Molecular Biology Branch, Division of Laboratory Sciences, National Center for Environmental Health, Centers for Disease Control and Prevention, Atlanta, GA 30341, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1632-5777","authenticated-orcid":false,"given":"C.","family":"Pickens","sequence":"additional","affiliation":[{"name":"Newborn Screening and Molecular Biology Branch, Division of Laboratory Sciences, National Center for Environmental Health, Centers for Disease Control and Prevention, Atlanta, GA 30341, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"The ISNS Representatives","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3773-1929","authenticated-orcid":false,"given":"Francjan","family":"van Spronsen","sequence":"additional","affiliation":[{"name":"Section of Metabolic Diseases, Beatrix Children\u2019s Hospital, University Medical Center Groningen, University of Groningen, 9700 RB Groningen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3477-0770","authenticated-orcid":false,"given":"M.","family":"Heiner-Fokkema","sequence":"additional","affiliation":[{"name":"Laboratory of Metabolic Diseases, Department of Laboratory Medicine, University Medical Center Groningen, University of Groningen, P.O. Box 30 001, 9700 RB Groningen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,12,16]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1187","DOI":"10.1002\/hep.1840200513","article-title":"Hereditary Tyrosinemia Type I: A New Clinical Classification with Difference in Prognosis on Dietary Treatment","volume":"20","author":"Thomasse","year":"1994","journal-title":"Hepatology"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1186\/1750-1172-8-8","article-title":"Recommendations for the Management of Tyrosinaemia Type 1","volume":"8","author":"Leonard","year":"2013","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_3","doi-asserted-by":"crossref","unstructured":"Mckiernan, P.J. (2006). Nitisinone in the Treatment of Hereditary Tyrosinaemia Type 1, Springer.","DOI":"10.2165\/00003495-200666060-00002"},{"key":"ref_4","doi-asserted-by":"crossref","unstructured":"Gigu\u00e8re, Y., and Berthier, M. (2017). Newborn Screening for Hereditary Tyrosinemia Type I in Qu\u00e9bec: Update, Advances in Experimental Medicine and Biology. Hereditary Tyrosinemia: Pathogenesis, Screening and Management, Springer.","DOI":"10.1007\/978-3-319-55780-9_13"},{"key":"ref_5","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_6","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_7","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_8","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_9","unstructured":"Nawijn, L., Rijpstra, A., Breuning-Boers, J., and Verkerk, P. (2024, May 05). Evaluatie van de Neonatale Hieprikscreening Bij Kinderen Geboren in 2008. TNO rapport KCL\/P&Z?2010.105. Available online: https:\/\/www.pns.nl\/documenten\/evaluatie-van-neonatale-hielprikscreening-bij-kinderen-geboren-in-2008."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1016\/j.ymgme.2005.12.005","article-title":"Quantitative Determination of Succinylacetone in Dried Blood Spots for Newborn Screening of Tyrosinemia Type I","volume":"88","author":"Magera","year":"2006","journal-title":"Mol. Genet. Metab."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1373\/clinchem.2007.101949","article-title":"Combined Newborn Screening for Succinylacetone, Amino Acids, and Acylcarnitines in Dried Blood Spots","volume":"54","author":"Turgeon","year":"2008","journal-title":"Clin. Chem."},{"key":"ref_12","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_13","first-page":"90","article-title":"Inter-Laboratory Analytical Improvement of Succinylacetone and Nitisinone Quantification from Dried Blood Spot Samples","volume":"53","author":"Laeremans","year":"2020","journal-title":"JIMD Rep."},{"key":"ref_14","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_15","unstructured":"Wins, S., Verkerk, P.H., and van der Ploeg, K. (2023, July 13). The Newborn Blood Spot Screening in the Netherlands Monitor 2020 (Evaluation Report. 2020). Available online: https:\/\/www.pns.nl\/sites\/default\/files\/2022-01\/The%20Newborn%20Blood%20Spot%20Screening%20Monitor%202020.pdf."},{"key":"ref_16","unstructured":"(2024, May 05). DGNS Newborn Screening Reports. Available online: https:\/\/www.screening-dgns.de\/reports.php."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"13","DOI":"10.3390\/ijns1010013","article-title":"The Newborn Screening Quality Assurance Program at the Centers for Disease Control and Prevention: Thirty-Five Year Experience Assuring Newborn Screening Laboratory Quality","volume":"1","author":"Mei","year":"2015","journal-title":"Int. J. Neonatal Screen."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"1007","DOI":"10.1007\/s10545-015-9830-z","article-title":"Newborn Screening for Homocystinurias and Methylation Disorders: Systematic Review and Proposed Guidelines","volume":"38","author":"Huemer","year":"2015","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1016\/j.ymgme.2017.07.011","article-title":"Newborn Screening for Carnitine Palmitoyltransferase II Deficiency Using (C16 + C18:1)\/C2: Evaluation of Additional Indices for Adequate Sensitivity and Lower False-Positivity","volume":"122","author":"Tajima","year":"2017","journal-title":"Mol. Genet. Metab."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"631","DOI":"10.1016\/j.cca.2010.12.021","article-title":"Proficiency Testing Outcomes of 3-Hydroxyisovalerylcarnitine Measurements by Tandem Mass Spectrometry in Newborn Screening","volume":"412","author":"Lim","year":"2011","journal-title":"Clin. Chim. Acta"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1016\/j.cca.2008.10.035","article-title":"Quantification of Malonylcarnitine in Dried Blood Spots by Use of MS\/MS Varies by Stable Isotope Internal Standard Composition","volume":"402","author":"Chace","year":"2009","journal-title":"Clinica Chimica Acta"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1053\/j.semperi.2009.12.003","article-title":"Improving and Assuring Newborn Screening Laboratory Quality Worldwide: 30-Year Experience at the Centers for Disease Control and Prevention","volume":"34","author":"Mei","year":"2010","journal-title":"Semin. Perinatol."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"684","DOI":"10.1016\/j.cca.2010.01.034","article-title":"Comparison of Amino Acids and Acylcarnitines Assay Methods Used in Newborn Screening Assays by Tandem Mass Spectrometry","volume":"411","author":"Chace","year":"2010","journal-title":"Clin. Chim. Acta"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"1658","DOI":"10.1016\/j.clinbiochem.2012.08.007","article-title":"Performance of Succinylacetone Assays and Their Associated Proficiency Testing Outcomes","volume":"45","author":"Adam","year":"2012","journal-title":"Clin. Biochem."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1016\/j.cca.2009.06.017","article-title":"Improved MS\/MS Analysis of Succinylacetone Extracted from Dried Blood Spots When Combined with Amino Acids and Acylcarnitine Butyl Esters","volume":"407","author":"Chace","year":"2009","journal-title":"Clin. Chim. Acta"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.jmsacl.2022.12.002","article-title":"The VALIDity of Laboratory Developed Tests: Leave It to the Experts?","volume":"27","author":"Marzinke","year":"2023","journal-title":"J. Mass Spectrom. Adv. Clin. Lab"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1515\/cclm-2020-1384","article-title":"The End of the Laboratory Developed Test as We Know It? Recommendations from a National Multidisciplinary Taskforce of Laboratory Specialists on the Interpretation of the IVDR and Its Complications","volume":"59","author":"Bank","year":"2021","journal-title":"Clin. Chem. Lab. Med."},{"key":"ref_28","unstructured":"Food and Drug Administration (FDA), Office of Public Health Strategy and Analysis, and Office of the Commissioner (2015). The Public Health Evidence f or FDA Oversight of Laboratory Developed Tests: 20 Case Studies Executive Summary, Food and Drug Administration (FDA); Office of Public Health Strategy and Analysis; Office of the Commissioner."},{"key":"ref_29","unstructured":"(2021). European Commission-Press Release Public Health: Commission Proposes a Progressive Roll-out of the New In Vitro Diagnostic Medical Devices Regulation, European Commission."},{"key":"ref_30","unstructured":"(2024). U.S. Food and Drug Administration Federal Register Documents: Final Rule: Medical Devices; Laboratory Developed Tests, U.S. Food and Drug Administration."},{"key":"ref_31","doi-asserted-by":"crossref","unstructured":"Priestley, J.R.C., Alharbi, H., Callahan, K.P., Guzman, H., Payan-Walters, I., Smith, L., Ficicioglu, C., Ganetzky, R.D., and Ahrens-Nicklas, R.C. (2020). The Importance of Succinylacetone: Tyrosinemia Type I Presenting with Hyperinsulinism and Multiorgan Failure Following Normal Newborn Screening. Int. J. Neonatal Screen., 6.","DOI":"10.3390\/ijns6020039"},{"key":"ref_32","first-page":"107","article-title":"Newborn Screening for Tyrosinemia Type I: Further Evidence That Succinylacetone Determination on Blood Spot Is Essential","volume":"1","author":"Malvagia","year":"2011","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"2304","DOI":"10.1056\/NEJMoa025225","article-title":"Screening Newborns for Inborn Errors of Metabolism by Tandem Mass Spectrometry","volume":"348","author":"Wilcken","year":"2003","journal-title":"N. Engl. J. Med."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1136\/jmedgenet-2016-104289","article-title":"Hypersuccinylacetonaemia and Normal Liver Function in Maleylacetoacetate Isomerase Deficiency","volume":"54","author":"Yang","year":"2017","journal-title":"J. Med. Genet."},{"key":"ref_35","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_36","doi-asserted-by":"crossref","unstructured":"Gramer, G., Wortmann, S.B., Fang-Hoffmann, J., Kohlm\u00fcller, D., Okun, J.G., Prokisch, H., Meitinger, T., and Hoffmann, G.F. (2024). New Cases of Maleylacetoacetate Isomerase Deficiency with Detection by Newborn Screening and Natural History over 32 Years: Experience from a German Newborn Screening Center. Int. J. Neonatal Screen., 10.","DOI":"10.3390\/ijns10010017"},{"key":"ref_37","doi-asserted-by":"crossref","unstructured":"Zea-Rey, A.V., Cruz-Camino, H., Vazquez-Cantu, D.L., Guti\u00e9rrez-Garc\u00eda, V.M., Santos-Guzm\u00e1n, J., and Cant\u00fa-Reyna, C. (2017). The Incidence of Transient Neonatal Tyrosinemia Within a Mexican Population. J. Inborn Errors Metab. Screen., 5.","DOI":"10.1177\/2326409817744230"},{"key":"ref_38","doi-asserted-by":"crossref","unstructured":"Peng, G., Tang, Y., Cowan, T.M., Zhao, H., and Scharfe, C. (2021). Timing of Newborn Blood Collection Alters Metabolic Disease Screening Performance. Front. Pediatr., 8.","DOI":"10.3389\/fped.2020.623184"},{"key":"ref_39","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_40","doi-asserted-by":"crossref","first-page":"889","DOI":"10.1038\/gim.2014.62","article-title":"Postanalytical Tools Improve Performance of Newborn Screening by Tandem Mass Spectrometry","volume":"16","author":"Hall","year":"2014","journal-title":"Genet. Med."},{"key":"ref_41","doi-asserted-by":"crossref","unstructured":"Pickens, C.A., Sternberg, M., Seeterlin, M., de Jes\u00fas, V.R., Morrissey, M., Manning, A., Bhakta, S., Held, P.K., Mei, J., and Cuthbert, C. (2020). Harmonizing Newborn Screening Laboratory Proficiency Test Results Using the CDC NSQAP Reference Materials. Int. J. Neonatal Screen., 6.","DOI":"10.3390\/ijns6030075"},{"key":"ref_42","first-page":"5","article-title":"Harmonization of Clinical Laboratory Test Results","volume":"27","author":"Tate","year":"2016","journal-title":"EJIFCC"},{"key":"ref_43","unstructured":"Armbruster, D., and Donnelly, J. (2016). Harmonization of Clinical Laboratory Test Results: The Role of the IVD Industry. EJIFCC, 27."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1186\/1750-1172-4-28","article-title":"A Novel Mutation Causing Mild, Atypical Fumarylacetoacetase Deficiency (Tyrosinemia Type I): A Case Report","volume":"4","author":"Cassiman","year":"2009","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_45","first-page":"255","article-title":"Hereditary Tyrosinaemia Type 1 in the Absence of Succinylacetone: 4-Oxo 6-Hydroxyhepanoate (4OHHA), a Putative Diagnostic Biomarker","volume":"65","author":"Rehsi","year":"2024","journal-title":"JIMD Rep."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"e230141","DOI":"10.1530\/ETJ-23-0141","article-title":"Optimizing the Dutch Newborn Screening for Congenital Hypothyroidism by Incorporating Amino Acids and Acylcarnitines in a Machine Learning-Based Model","volume":"12","author":"Jansen","year":"2023","journal-title":"Eur. Thyroid. J."},{"key":"ref_47","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_48","doi-asserted-by":"crossref","first-page":"627","DOI":"10.1373\/clinchem.2008.103200","article-title":"Enhancing Newborn Screening for Tyrosinemia Type I","volume":"54","author":"Pass","year":"2008","journal-title":"Clin. Chem."},{"key":"ref_49","doi-asserted-by":"crossref","unstructured":"Tangeraas, T., S\u00e6ves, I., Klingenberg, C., J\u00f8rgensen, J., Kristensen, E., Gunnarsdottir, G., Hansen, E.V., 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_50","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"}],"updated-by":[{"DOI":"10.3390\/ijns11030072","type":"correction","label":"Correction","source":"publisher","updated":{"date-parts":[[2024,12,16]],"date-time":"2024-12-16T00:00:00Z","timestamp":1734307200000}}],"container-title":["International Journal of Neonatal Screening"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2409-515X\/10\/4\/82\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,2]],"date-time":"2025-09-02T15:43:31Z","timestamp":1756827811000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2409-515X\/10\/4\/82"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,12,16]]},"references-count":50,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2024,12]]}},"alternative-id":["ijns10040082"],"URL":"https:\/\/doi.org\/10.3390\/ijns10040082","relation":{},"ISSN":["2409-515X"],"issn-type":[{"value":"2409-515X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,12,16]]}}}