{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T02:17:21Z","timestamp":1789179441783,"version":"build-2803163510"},"reference-count":31,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2012,5,1]],"date-time":"2012-05-01T00:00:00Z","timestamp":1335830400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2012,5]]},"DOI":"10.1016\/j.ymgme.2012.02.007","type":"journal-article","created":{"date-parts":[[2012,2,10]],"date-time":"2012-02-10T05:35:03Z","timestamp":1328852103000},"page":"55-61","source":"Crossref","is-referenced-by-count":62,"title":["Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California"],"prefix":"10.1016","volume":"106","author":[{"given":"Natalie M.","family":"Gallant","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen","family":"Leydiker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hao","family":"Tang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa","family":"Feuchtbaum","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fred","family":"Lorey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca","family":"Puckett","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joshua L.","family":"Deignan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie","family":"Neidich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naghmeh","family":"Dorrani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erica","family":"Chang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruce A.","family":"Barshop","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen D.","family":"Cederbaum","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jose E.","family":"Abdenur","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raymond Y.","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2012.02.007_bb0005","doi-asserted-by":"crossref","first-page":"943","DOI":"10.1001\/jama.296.8.943","article-title":"Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency","volume":"2986","author":"van Maldegem","year":"2006","journal-title":"JAMA"},{"key":"10.1016\/j.ymgme.2012.02.007_bb0010","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1016\/j.ymgme.2008.09.007","article-title":"Short-chain acyl-coenzyme A dehydrogenase deficiency","volume":"95","author":"Jethva","year":"2008","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2012.02.007_bb0015","doi-asserted-by":"crossref","first-page":"1059","DOI":"10.1203\/00006450-199606000-00021","article-title":"Ethylmalonic aciduria is associated with an amino acid variant of short chain acyl-coenzyme A dehydrogenase","volume":"39","author":"Corydon","year":"1996","journal-title":"Pediatr. Res."},{"key":"10.1016\/j.ymgme.2012.02.007_bb0020","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1093\/hmg\/7.4.619","volume":"7","author":"Gregersen","year":"1998","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ymgme.2012.02.007_bb0025","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1203\/01.PDR.0000074972.36356.89","article-title":"Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening","volume":"52","author":"Koeberl","year":"2003","journal-title":"Pediatr. Res."},{"key":"10.1016\/j.ymgme.2012.02.007_bb0030","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1007\/s00439-008-0521-9","article-title":"The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level","volume":"124","author":"Pedersen","year":"2008","journal-title":"Hum. Genet."},{"key":"10.1016\/j.ymgme.2012.02.007_bb0035","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1016\/S1096-7192(03)00034-9","article-title":"The frequency of short-chain acyl-CoA dehydrogenase gene variants in the US population and correlation with the C(4)-acylcarnitine concentration in newborn blood spots","volume":"78","author":"Nagan","year":"2003","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2012.02.007_bb0040","doi-asserted-by":"crossref","first-page":"47449","DOI":"10.1074\/jbc.M309514200","article-title":"Misfolding, degradation, and aggregation of variant proteins. The molecular pathogenesis of short chain acyl-CoA dehydrogenase (SCAD) deficiency","volume":"278","author":"Pedersen","year":"2003","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ymgme.2012.02.007_bb0045","doi-asserted-by":"crossref","first-page":"1303","DOI":"10.1172\/JCI112953","article-title":"Short-chain acyl-coenzyme A dehydrogenase deficiency. Clinical and biochemical studies in two patients","volume":"79","author":"Amendt","year":"1987","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.ymgme.2012.02.007_bb0050","doi-asserted-by":"crossref","first-page":"910","DOI":"10.1016\/S0022-3476(95)70207-5","article-title":"Clinical and biochemical characterization of short-chain acyl-coenzyme A dehydrogenase deficiency","volume":"126","author":"Bhala","year":"1995","journal-title":"J. Pediatr."},{"key":"10.1016\/j.ymgme.2012.02.007_bb0055","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1007\/s10545-010-9080-z","article-title":"Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency","volume":"33","author":"van Maldegem","year":"2010","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2012.02.007_bb0060","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":"10.1016\/j.ymgme.2012.02.007_bb0065","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1203\/01.PDR.0000074972.36356.89","article-title":"Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening","volume":"54","author":"Koeberl","year":"2003","journal-title":"Pediatr. Res."},{"key":"10.1016\/j.ymgme.2012.02.007_bb0070","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1016\/j.ymgme.2008.06.002","article-title":"Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms","volume":"95","author":"Waisbren","year":"2008","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2012.02.007_bb0075","doi-asserted-by":"crossref","first-page":"3894","DOI":"10.1093\/nar\/gkf493","article-title":"Human non-synonymous SNPs: server and survey","volume":"30","author":"Ramensky","year":"2002","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ymgme.2012.02.007_bb0080","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat. Methods"},{"key":"10.1016\/j.ymgme.2012.02.007_bb0085","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1038\/nprot.2009.86","article-title":"Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm","volume":"5","author":"Kumar","year":"2009","journal-title":"Nat. Protoc."},{"key":"10.1016\/j.ymgme.2012.02.007_bb0090","doi-asserted-by":"crossref","first-page":"3812","DOI":"10.1093\/nar\/gkg509","article-title":"SIFT: predicting amino acid changes that affect protein function","volume":"31","author":"Ng","year":"2003","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ymgme.2012.02.007_bb0095","doi-asserted-by":"crossref","first-page":"1945","DOI":"10.1093\/clinchem\/47.11.1945","article-title":"Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program","volume":"47","author":"Zytkovicz","year":"2001","journal-title":"Clin. Chem."},{"key":"10.1016\/j.ymgme.2012.02.007_bb0100","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1097\/GIM.0b013e31820d5e67","article-title":"Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project","volume":"13","author":"McHugh","year":"2011","journal-title":"Genet. Med."},{"key":"10.1016\/j.ymgme.2012.02.007_bb0105","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1203\/01.pdr.0000233085.72522.04","article-title":"Variations in IBD (ACAD8) in children with elevated C4-carnitine detected by tandem mass spectrometry newborn screening","volume":"60","author":"Pedersen","year":"2006","journal-title":"Pediatr. Res."},{"key":"10.1016\/j.ymgme.2012.02.007_bb0110","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1002\/jms.964","article-title":"Falsely elevated C4-carnitine as expression of glutamate formiminotransferase deficiency in tandem mass spectrometry newborn screening","volume":"41","author":"Malvagia","year":"2006","journal-title":"J. Mass Spectrom."},{"key":"10.1016\/j.ymgme.2012.02.007_bb0115","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1016\/j.ymgme.2010.05.012","article-title":"Rapid determination of C4-acylcarnitine and C5-acylcarnitine isomers in plasma and dried blood spots by UPLC\u2013MS\/MS as a second tier test","volume":"101","author":"Forni","year":"2010","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2012.02.007_bb0120","doi-asserted-by":"crossref","first-page":"685","DOI":"10.1007\/s10545-006-0342-8","article-title":"Persistent increase of plasma butyryl\/isobutyrylcarnitine concentrations as marker of SCAD defect and ethylmalonic encephalopathy","volume":"29","author":"Merinero","year":"2006","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2012.02.007_bb0125","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1055\/s-2007-984447","article-title":"Ethylmalonic encephalopathy: clinical and biochemical observations","volume":"38","author":"Zafeiriou","year":"2007","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.ymgme.2012.02.007_bb0130","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1111\/j.1399-0004.2010.01457.x","article-title":"Ethylmalonic encephalopathy: application of improved biochemical and molecular diagnostic approaches","volume":"79","author":"Drousiotou","year":"2011","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ymgme.2012.02.007_bb0135","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1007\/s10545-005-0557-0","article-title":"The 625G>A SCAD gene variant is common but not associated with increased C4-carnitine in newborn blood spots","volume":"28","author":"van Maldegem","year":"2005","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2012.02.007_bb0140","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1016\/j.ymgme.2008.09.003","article-title":"Clinical outcomes of infants with short-chain acyl-coenzyme A dehydrogenase deficiency (SCADD) detected by newborn screening","volume":"95","author":"Jethva","year":"2008","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2012.02.007_bb0145","series-title":"Rudolph's Pediatrics","first-page":"124","article-title":"Language delay: late talking to communication disorder","author":"Shonkoff","year":"1996"},{"key":"10.1016\/j.ymgme.2012.02.007_bb0150","doi-asserted-by":"crossref","first-page":"630","DOI":"10.1111\/j.1469-8749.1987.tb08505.x","article-title":"A longitudinal study of children with developmental language delay at age three: later intelligence, reading and behaviour problems","volume":"29","author":"Silva","year":"1987","journal-title":"Dev. Med. Child Neurol."},{"key":"10.1016\/j.ymgme.2012.02.007_bb0155","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1111\/j.1469-8749.1976.tb03682.x","article-title":"The prevalence of language delay in a population of three-year-old children and its association with general retardation","volume":"18","author":"Stevenson","year":"1976","journal-title":"Dev. Med. Child Neurol."}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719212000327?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719212000327?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2020,7,2]],"date-time":"2020-07-02T02:23:25Z","timestamp":1593656605000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719212000327"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,5]]},"references-count":31,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2012,5]]}},"alternative-id":["S1096719212000327"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2012.02.007","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2012,5]]}}}