{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,27]],"date-time":"2026-10-27T17:08:36Z","timestamp":1793120916553,"version":"4.5.0"},"reference-count":50,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2017,1,4]],"date-time":"2017-01-04T00:00:00Z","timestamp":1483488000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2017,1,4]],"date-time":"2017-01-04T00:00:00Z","timestamp":1483488000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2017,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>There is no universal consensus of the disorders included in newborn screening programs. Few studies so far, mostly short\u2010term, have compared the outcome of disorders detected by expanded newborn screening (ENBS) to the outcome of the same disorders detected clinically.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We compared the clinical and neurodevelopmental outcomes in patients with metabolic disorders detected by ENBS, including biotinidase testing, with those detected clinically and followed at the Metabolism Clinic at Boston Children's Hospital.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>One hundred eighty\u2010nine patients came to attention from ENBS and 142 were clinically diagnosed. 3\u2010methylcrotonyl\u2010CoA carboxylase, biotinidase, and carnitine deficiencies were exclusively identified by ENBS and medium chain acyl\u2010CoA dehydrogenase (MCADD) and very long chain acyl\u2010CoA dehydrogenase deficiencies (VLCADD) were predominantly identified by ENBS whereas the organic acid disorders more often came to attention clinically. Only 2% of the ENBS\u2010detected cases had clinically severe outcomes compared to 42% of those clinically detected. The mean IQ score was 103\u2009+\u200917 for the ENBS\u2010detected cases and 77\u2009+\u200924 for those clinically detected. Those newly included disorders that seem to derive the greatest benefit from ENBS include the fatty acid oxidation disorders, profound biotinidase deficiency, tyrosinemia type 1, and perhaps carnitine deficiency.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Although the NBS\u2010identified and clinically\u2010identified cohorts were not completely comparable, this long\u2010term study shows likely substantial improvement overall in the outcome of these metabolic disorders in the NBS infants. Infants with mild disorders and benign variants may represent a significant number of infants identified by ENBS. The future challenge will be to unequivocally differentiate the disorders most benefitting from ENBS and adjust programs accordingly.<\/jats:p><\/jats:sec>","DOI":"10.1007\/s10545-016-0004-4","type":"journal-article","created":{"date-parts":[[2017,1,4]],"date-time":"2017-01-04T03:32:21Z","timestamp":1483500741000},"page":"209-218","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":39,"title":["Long\u2010term outcome of expanded newborn screening at Boston children's hospital: benefits and challenges in defining true disease"],"prefix":"10.1002","volume":"40","author":[{"given":"Yuval E.","family":"Landau","sequence":"first","affiliation":[{"name":"Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, The Chaim Sheba Medical Center, Tel Hashomer, and the Sackler School of Medicine Tel Aviv University Tel Aviv Israel"},{"name":"Division of Genetics and Genomics, Boston Children's Hospital and Department of Pediatrics Harvard Medical School 1 Autumn Street, Rm 526.1 Boston MA 02115 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan E.","family":"Waisbren","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomics, Boston Children's Hospital and Department of Pediatrics Harvard Medical School 1 Autumn Street, Rm 526.1 Boston MA 02115 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lawrence M. 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