{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,5]],"date-time":"2026-09-05T05:53:17Z","timestamp":1788587597633,"version":"build-2803163510"},"reference-count":30,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2019,2,11]],"date-time":"2019-02-11T00:00:00Z","timestamp":1549843200000},"content-version":"vor","delay-in-days":41,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000871","name":"Mayo Clinic","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000871","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007397","name":"Univerzita Karlova v Praze","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007397","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003243","name":"Ministerstvo Zdravotnictv\u00ed Cesk\u00e9 Republiky","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003243","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2019,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Purpose<\/jats:title><jats:p>To assess how the current practice of newborn screening (NBS) for homocystinurias compares with published recommendations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Twenty\u2010two of 32 NBS programmes from 18 countries screened for at least one form of homocystinuria. Centres provided pseudonymised NBS data from patients with cystathionine beta\u2010synthase deficiency (CBSD, <jats:italic>n<\/jats:italic>\u2009=\u200919), methionine adenosyltransferase I\/III deficiency (MATI\/IIID, <jats:italic>n<\/jats:italic>\u2009=\u200928), combined remethylation disorder (cRMD, <jats:italic>n<\/jats:italic>\u2009=\u200956) and isolated remethylation disorder (iRMD), including methylenetetrahydrofolate reductase deficiency (MTHFRD) (<jats:italic>n<\/jats:italic>\u2009=\u20098). Markers and decision limits were converted to multiples of the median (MoM) to allow comparison between centres.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>NBS programmes, algorithms and decision limits varied considerably. Only nine centres used the recommended second\u2010tier marker total homocysteine (tHcy). The median decision limits of all centres were\u2009\u2265\u20092.35 for high and\u2009\u2264\u20090.44 MoM for low methionine, \u2265\u20091.95 for high and\u2009\u2264\u20090.47 MoM for low methionine\/phenylalanine, \u2265\u20092.54 for high propionylcarnitine and\u2009\u2265\u20092.78 MoM for propionylcarnitine\/acetylcarnitine. These decision limits alone had a 100%, 100%, 86% and 84% sensitivity for the detection of CBSD, MATI\/IIID, iRMD and cRMD, respectively, but failed to detect six individuals with cRMD. To enhance sensitivity and decrease second\u2010tier testing costs, we further adapted these decision limits using the data of 15\u2009000 healthy newborns.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Due to the favorable outcome of early treated patients, NBS for homocystinurias is recommended. To improve NBS, decision limits should be revised considering the population median. Relevant markers should be combined; use of the postanalytical tools offered by the CLIR project (Collaborative Laboratory Integrated Reports, which considers, for example, birth weight and gestational age) is recommended. tHcy and methylmalonic acid should be implemented as second\u2010tier markers.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jimd.12034","type":"journal-article","created":{"date-parts":[[2019,2,11]],"date-time":"2019-02-11T08:08:54Z","timestamp":1549872534000},"page":"128-139","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":45,"title":["Newborn screening for homocystinurias: Recent recommendations versus current practice"],"prefix":"10.1002","volume":"42","author":[{"given":"Rebecca","family":"Keller","sequence":"first","affiliation":[{"name":"Division of Metabolism and Children's Research Center University Children's Hospital Z\u00fcrich  Z\u00fcrich Switzerland"},{"name":"radiz\u2014Rare Disease Initiative Z\u00fcrich, Clinical Research Priority Program University of Z\u00fcrich  Z\u00fcrich Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Petr","family":"Chrastina","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine Charles University\u2014First Faculty of Medicine and General University Hospital  Ke Karlovu 2, 128 08 Praha 2, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark\u00e9ta","family":"Pavl\u00edkov\u00e1","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine Charles University\u2014First Faculty of Medicine and General University Hospital  Ke Karlovu 2, 128 08 Praha 2, Czech Republic"},{"name":"Department of Probability and Mathematical Statistics Charles University\u2014Faculty of Mathematics and Physics  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sof\u00eda","family":"Gouveia","sequence":"additional","affiliation":[{"name":"Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, S. Neonatology, Department of Pediatrics Hospital Cl\u00ednico Universitario de Santiago de Compostela, CIBERER, Health Research Institute of Santiago de Compostela (IDIS)  Santiago de Compostela Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonia","family":"Ribes","sequence":"additional","affiliation":[{"name":"Division of Inborn Errors of Metabolism, Department of Biochemistry and Molecular Genetics Hospital Clinic de Barcelona, CIBERER  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefan","family":"K\u00f6lker","sequence":"additional","affiliation":[{"name":"Division of Neuropaediatrics and Metabolic Medicine, Centre for Paediatric and Adolescent Medicine University Hospital Heidelberg  Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henk J.","family":"Blom","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine VU Medical Center  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthias R.","family":"Baumgartner","sequence":"additional","affiliation":[{"name":"Division of Metabolism and Children's Research Center University Children's Hospital Z\u00fcrich  Z\u00fcrich Switzerland"},{"name":"radiz\u2014Rare Disease Initiative Z\u00fcrich, Clinical Research Priority Program University of Z\u00fcrich  Z\u00fcrich Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Josef","family":"B\u00e1rtl","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine Charles University\u2014First Faculty of Medicine and General University Hospital  Ke Karlovu 2, 128 08 Praha 2, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlo","family":"Dionisi\u2010Vici","sequence":"additional","affiliation":[{"name":"Division of Metabolism Bambino Ges\u00f9 Children's Research Hospital  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florian","family":"Gleich","sequence":"additional","affiliation":[{"name":"Division of Neuropaediatrics and Metabolic Medicine, Centre for Paediatric and Adolescent Medicine University Hospital Heidelberg  Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew A.","family":"Morris","sequence":"additional","affiliation":[{"name":"Manchester Centre for Genomic Medicine Manchester University Hospitals NHS Trust  Manchester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Viktor","family":"Ko\u017eich","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine Charles University\u2014First Faculty of Medicine and General University Hospital  Ke Karlovu 2, 128 08 Praha 2, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martina","family":"Huemer","sequence":"additional","affiliation":[{"name":"Division of Metabolism and Children's Research Center University Children's Hospital Z\u00fcrich  Z\u00fcrich Switzerland"},{"name":"radiz\u2014Rare Disease Initiative Z\u00fcrich, Clinical Research Priority Program University of Z\u00fcrich  Z\u00fcrich Switzerland"},{"name":"Department of Paediatrics Landeskrankenhaus Bregenz  Bregenz Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"and individual contributors of the European Network and Registry for Homocystinurias and Methylation Defects (E\u2010HOD)","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivo","family":"Bari\u0107","sequence":"additional","affiliation":[{"name":"School of Medicine University Hospital Centre Zagreb and University of Zagreb  Zagreb Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tawfeq","family":"Ben\u2010Omran","sequence":"additional","affiliation":[{"name":"Clinical and Metabolic Genetics, Department of Pediatrics Hamad Medical Corporation  Doha Qatar"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Javier","family":"Blasco\u2010Alonso","sequence":"additional","affiliation":[{"name":"Gastroenterology and Nutrition Unit Hospital Regional Universitario de M\u00e1laga  M\u00e1laga Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria A.","family":"Bueno Delgado","sequence":"additional","affiliation":[{"name":"Clinical Laboratory of Metabolic Diseases and Occidental Andalucia Newborn Screening Center Hospital Universitario Virgen del Roc\u00edo  Sevilla Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Carducci","sequence":"additional","affiliation":[{"name":"Department of Experimental Medicine Sapienza University of Rome  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michela","family":"Cassanello","sequence":"additional","affiliation":[{"name":"Laboratory for the Study of Inborn Errors of Metabolism Istituto Giannina Gaslini  Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberto","family":"Cerone","sequence":"additional","affiliation":[{"name":"Regional Center for Neonatal Screening and Diagnosis of Metabolic Diseases University Department of Pediatrics\u2014Istituto Giannina Gaslini  Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Luz","family":"Couce","sequence":"additional","affiliation":[{"name":"Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, S. Neonatology, Department of Pediatrics Hospital Cl\u00ednico Universitario de Santiago de Compostela, CIBERER, Health Research Institute of Santiago de Compostela (IDIS)  Santiago de Compostela Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ellen","family":"Crushell","sequence":"additional","affiliation":[{"name":"National Centre for Inherited Metabolic Disorders Temple Street Children's University Hospital  Dublin Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmen","family":"Delgado Pecellin","sequence":"additional","affiliation":[{"name":"Clinical Laboratory of Metabolic Diseases and Occidental Andalucia Newborn Screening Center Hospital Universitario Virgen del Roc\u00edo  Sevilla Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Dulin","sequence":"additional","affiliation":[{"name":"Hospital Gregorio Mara\u00f1on  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mercedes","family":"Espada","sequence":"additional","affiliation":[{"name":"Clinical Chemistry Unit Public Health Laboratory of Bilbao  Euskadi Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulio","family":"Ferino","sequence":"additional","affiliation":[{"name":"Regional Center for Newborn Screening Pediatric Hospital A. Cao, AOB Brotzu  Cagliari Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ralph","family":"Fingerhut","sequence":"additional","affiliation":[{"name":"Division of Metabolism and Children's Research Center University Children's Hospital Z\u00fcrich  Z\u00fcrich Switzerland"},{"name":"Swiss Newborn Screening Laboratory University Children's Hospital Zurich  Zurich Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Immaculada","family":"Garcia Jimenez","sequence":"additional","affiliation":[{"name":"Unidad de Metabolismo Hospital Infantil Miguel Servet  Zaragoza Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Immaculada","family":"Gonzalez Gallego","sequence":"additional","affiliation":[{"name":"Secci\u00f3n Metabolopat\u00edas Centro de Bioqu\u00edmica y Genetica Hospital Virgen de la Arrixaca  Murcia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yolanda","family":"Gonz\u00e1lez\u2010Irazabal","sequence":"additional","affiliation":[{"name":"Unidad de Metabolopatias, Servicio de Bioqu\u00edmica Cl\u00ednica Hospital Universitario Miguel Servet  Zaragoza Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gwendolyn","family":"Gramer","sequence":"additional","affiliation":[{"name":"Division of Neuropaediatrics and Metabolic Medicine, Centre for Paediatric and Adolescent Medicine University Hospital Heidelberg  Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Jesus","family":"Juan Fita","sequence":"additional","affiliation":[{"name":"Secci\u00f3n Metabolopat\u00edas Centro de Bioqu\u00edmica y Genetica Hospital Virgen de la Arrixaca  Murcia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eszter","family":"Karg","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Szeged  Szeged Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeanette","family":"Klein","sequence":"additional","affiliation":[{"name":"Newborn Screening Laboratory Charit\u00e9\u2014University Medicine Berlin  Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vassiliki","family":"Konstantopoulou","sequence":"additional","affiliation":[{"name":"Austrian Newborn Screening, Department of Pediatrics and Adolescent Medicine Medical University of Vienna  Vienna Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giancarlo","family":"la Marca","sequence":"additional","affiliation":[{"name":"Newborn Screening, Clinical Chemistry and Pharmacology Lab A. Meyer Children's University Hospital  Florence Italy"},{"name":"Department of Experimental and Clinical Biomedical Sciences University of Florence  Florence Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisa","family":"Le\u00e3o Teles","sequence":"additional","affiliation":[{"name":"Metabolic Unit, Department of Pediatrics San Joao Hospital  Porto Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincenzo","family":"Leuzzi","sequence":"additional","affiliation":[{"name":"Department of Human Neuroscience Sapienza University of Rome  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franco","family":"Lilliu","sequence":"additional","affiliation":[{"name":"Regional Center for Newborn Screening Pediatric Hospital A. Cao, AOB Brotzu  Cagliari Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosa Maria","family":"Lopez","sequence":"additional","affiliation":[{"name":"Division of Inborn Errors of Metabolism, Department of Biochemistry and Molecular Genetics Hospital Clinic de Barcelona, CIBERER  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Allan M.","family":"Lund","sequence":"additional","affiliation":[{"name":"Centre for Inherited Metabolic Diseases, Departments of Paediatrics and Clinical Genetics Copenhagen University Hospital  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philip","family":"Mayne","sequence":"additional","affiliation":[{"name":"National Newborn Bloodspot Screening Laboratory Temple Street Children's University Hospital  Dublin Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Meavilla","sequence":"additional","affiliation":[{"name":"Gastroenterology, Hepatology and Nutrition Department, Metabolic Unit Sant Joan de D\u00e9u Hospital, Barcelona Hospital Sant Joan de D\u00e9u  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stuart J.","family":"Moat","sequence":"additional","affiliation":[{"name":"Wales Newborn Screening Laboratory, Department of Medical Biochemistry, Immunology &amp; Toxicology and School of Medicine Cardiff University  Cardiff Wales, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00fcrgen G.","family":"Okun","sequence":"additional","affiliation":[{"name":"Division of Neuropaediatrics and Metabolic Medicine, Centre for Paediatric and Adolescent Medicine University Hospital Heidelberg  Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabeta","family":"Pasquini","sequence":"additional","affiliation":[{"name":"Metabolic and Newborn Screening Clinical Unit, Department of Neurosciences A. Meyer Children's University Hospital  Florence Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Consu\u00e9lo Carmen","family":"Pedron\u2010Giner","sequence":"additional","affiliation":[{"name":"Division of Gastroenterology and Nutrition Hospital Infantil Universitario Ni\u00f1o Jes\u00fas  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabor Zoltan","family":"Racz","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Szeged  Szeged Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Angeles","family":"Ruiz Gomez","sequence":"additional","affiliation":[{"name":"Clinical Lead in Metabolic Pediatric and Neurometabolic Diseases Son Espases University Hospital, PalmaMallorca Unit  Palma de Mallorca Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Vilarinho","sequence":"additional","affiliation":[{"name":"Newborn Screening, Metabolism &amp; Genetics Unit National Institute of Health  Porto Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raquel","family":"Yahyaoui","sequence":"additional","affiliation":[{"name":"Laboratory and Eastern Andalusia Newborn Screening Centre M\u00e1laga Regional University Hospital, Institute of Biomedical Research in M\u00e1laga (IBIMA)  M\u00e1laga Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Moja","family":"Zerjav Tansek","sequence":"additional","affiliation":[{"name":"Department of Diabetes, Endocrinology and Metabolic Diseases University Children's Hospital, UMC Ljubljana  Ljubljana Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rolf H.","family":"Zetterstr\u00f6m","sequence":"additional","affiliation":[{"name":"Centre for Inherited Metabolic Diseases Karolinska University Hospital  Stockholm Sweden"},{"name":"Department of Molecular Medicine and Surgery Karolinska Institutet  Stockholm Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maximilian","family":"Zeyda","sequence":"additional","affiliation":[{"name":"Austrian Newborn Screening, Department of Pediatrics and Adolescent Medicine Medical University of Vienna  Vienna Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,2,11]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-015-0321-y4545930"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-015-9830-z4626539"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-016-9979-0"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-011-9364-y"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaneurol.2013.4915"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2009.09.054"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-014-0161-14255922"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-010-9161-z"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2009.09.008"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2013.07.018"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.7707\/hmj.v5i3.191"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005445132327"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.624262759"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e31820d5e67"},{"key":"e_1_2_9_16_1","first-page":"281","article-title":"Principles and practice of mass screening for disease","volume":"65","author":"Wilson JM","year":"1968","journal-title":"Bol Oficina Sanit Panam"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12519-017-0003-z"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-007-0691-y"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2016_556"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2010.02.027"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2010.148957"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2015.09.012"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.preghy.2015.12.002"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2012.2"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545\u2010012\u20109483\u20100"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-016-9991-4"},{"key":"e_1_2_9_27_1","unstructured":"Centers for Disease Control and Prevention (CDC)(2017) 2016 quality control program report. Volume 27 no.2 issued: February 2017"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.194"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-016-0391-54741015"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-015-9873-1"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00112-014-3297-0"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fjimd.12034","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jimd.12034","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jimd.12034","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jimd.12034","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,20]],"date-time":"2023-10-20T06:08:24Z","timestamp":1697782104000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jimd.12034"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,1]]},"references-count":30,"aliases":["10.1007\/s10545-018-0213-0"],"journal-issue":{"issue":"1","published-print":{"date-parts":[[2019,1]]}},"alternative-id":["10.1002\/jimd.12034"],"URL":"https:\/\/doi.org\/10.1002\/jimd.12034","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,1]]},"assertion":[{"value":"2019-02-11","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}