{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,20]],"date-time":"2026-02-20T16:03:35Z","timestamp":1771603415385,"version":"3.50.1"},"reference-count":31,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2014,4,1]],"date-time":"2014-04-01T00:00:00Z","timestamp":1396310400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"name":"Health Resources and Services Administration, Maternal and Child Health Branch","award":["WSGSC: U22 MCH03961"],"award-info":[{"award-number":["WSGSC: U22 MCH03961"]}]}],"content-domain":{"domain":["mgmjournal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2014,4]]},"DOI":"10.1016\/j.ymgme.2014.01.009","type":"journal-article","created":{"date-parts":[[2014,1,23]],"date-time":"2014-01-23T09:46:02Z","timestamp":1390470362000},"page":"484-492","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":40,"title":["Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening"],"prefix":"10.1016","volume":"111","author":[{"suffix":"II","given":"J. Lawrence","family":"Merritt","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sverre","family":"Vedal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jose E.","family":"Abdenur","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sylvia M.","family":"Au","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bruce A.","family":"Barshop","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lisa","family":"Feuchtbaum","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cary O.","family":"Harding","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cheryl","family":"Hermerath","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fred","family":"Lorey","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David E.","family":"Sesser","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John D.","family":"Thompson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arthur","family":"Yu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2014.01.009_bb0005","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1016\/0925-4439(93)90058-9","article-title":"Very long chain acyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid oxidation in fibroblasts","volume":"1180","author":"Bertrand","year":"1993","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.ymgme.2014.01.009_bb0010","doi-asserted-by":"crossref","first-page":"657","DOI":"10.7205\/MILMED.171.7.657","article-title":"Rhabdomyolysis in the military: recognizing late-onset very long-chain acyl Co-A dehydrogenase deficiency","volume":"171","author":"Hoffman","year":"2006","journal-title":"Mil. Med."},{"key":"10.1016\/j.ymgme.2014.01.009_bb0015","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1016\/S0009-8981(97)00185-X","article-title":"Mitochondrial very-long-chain acyl-coenzyme A dehydrogenase deficiency: clinical characteristics and diagnostic considerations in 30 patients","volume":"269","author":"Vianey-Saban","year":"1998","journal-title":"Clin. Chim. Acta"},{"key":"10.1016\/j.ymgme.2014.01.009_bb0020","doi-asserted-by":"crossref","first-page":"790","DOI":"10.1053\/euhj.1997.0818","article-title":"Efficiency of metabolic screening in childhood cardiomyopathies","volume":"19","author":"Bonnet","year":"1998","journal-title":"Eur. Heart J."},{"key":"10.1016\/j.ymgme.2014.01.009_bb0025","doi-asserted-by":"crossref","first-page":"1273","DOI":"10.1097\/01.CCM.0000045201.10682.F6","article-title":"A young woman with persistent hypoglycemia, rhabdomyolysis, and coma: recognizing fatty acid oxidation defects in adults","volume":"31","author":"Kluge","year":"2003","journal-title":"Crit. Care Med."},{"key":"10.1016\/j.ymgme.2014.01.009_bb0030","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1016\/S0167-5273(98)00122-3","article-title":"Fatty acid beta-oxidation deficiency masquerading as fulminant myocarditis","volume":"65","author":"de Lonlay-Debeney","year":"1998","journal-title":"Int. J. Cardiol."},{"key":"10.1016\/j.ymgme.2014.01.009_bb0035","doi-asserted-by":"crossref","first-page":"324","DOI":"10.1373\/clinchem.2011.171215","article-title":"Newborn screening for metabolic disorders: how are we doing, and where are we going?","volume":"58","author":"Bennett","year":"2012","journal-title":"Clin. Chem."},{"key":"10.1016\/j.ymgme.2014.01.009_bb0040","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1007\/s10545-009-9001-1","article-title":"Fatty acid oxidation disorders: outcome and long-term prognosis","volume":"33","author":"Wilcken","year":"2010","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2014.01.009_bb0045","doi-asserted-by":"crossref","first-page":"S296","DOI":"10.1542\/peds.2005-2633I","article-title":"Newborn screening: toward a uniform screening panel and system\u2014executive summary","volume":"117","author":"Watson","year":"2006","journal-title":"Pediatrics"},{"key":"10.1016\/j.ymgme.2014.01.009_bb0050","doi-asserted-by":"crossref","first-page":"937","DOI":"10.1038\/gim.2012.76","article-title":"Birth prevalence of disorders detectable through newborn screening by race\/ethnicity","volume":"14","author":"Feuchtbaum","year":"2012","journal-title":"Genet. Med."},{"key":"10.1016\/j.ymgme.2014.01.009_bb0055","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.2014.01.009_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.2014.01.009_bb0065","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1146\/annurev.genom.3.022502.103213","article-title":"The application of tandem mass spectrometry to neonatal screening for inherited disorders of intermediary metabolism","volume":"3","author":"Chace","year":"2002","journal-title":"Annu. Rev. Genomics Hum. Genet."},{"key":"10.1016\/j.ymgme.2014.01.009_bb0070","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1016\/j.ymgme.2005.12.012","article-title":"VLCADD deficiency: pitfalls in newborn screening and confirmation of diagnosis by mutation analysis","volume":"88","author":"Boneh","year":"2006","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2014.01.009_bb0075","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1067\/S0022-3476(03)00292-0","article-title":"MS\/MS-based newborn and family screening detects asymptomatic patients with very-long-chain acyl-CoA dehydrogenase deficiency","volume":"143","author":"Spiekerkoetter","year":"2003","journal-title":"J. Pediatr."},{"key":"10.1016\/j.ymgme.2014.01.009_bb0090","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1016\/j.ymgme.2008.09.008","article-title":"A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency","volume":"96","author":"Arnold","year":"2009","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2014.01.009_bb0095","doi-asserted-by":"crossref","first-page":"1031","DOI":"10.1016\/j.jpeds.2011.01.063","article-title":"Positive newborn screen in a normal infant of a mother with asymptomatic very long-chain Acyl-CoA dehydrogenase deficiency","volume":"158","author":"McGoey","year":"2011","journal-title":"J. Pediatr."},{"key":"10.1016\/j.ymgme.2014.01.009_bb0100","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1016\/j.jpeds.2006.02.037","article-title":"Pitfalls of neonatal screening for very-long-chain acyl-CoA dehydrogenase deficiency using tandem mass spectrometry","volume":"149","author":"Schymik","year":"2006","journal-title":"J. Pediatr."},{"key":"10.1016\/j.ymgme.2014.01.009_bb0105","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1007\/s10545-005-0545-4","article-title":"Normal acylcarnitine levels during confirmation of abnormal newborn screening in long-chain fatty acid oxidation defects","volume":"28","author":"Browning","year":"2005","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2014.01.009_bb0110","doi-asserted-by":"crossref","first-page":"492","DOI":"10.1016\/j.jpeds.2009.10.031","article-title":"Very long-chain acyl-CoA dehydrogenase deficiency in a patient with normal newborn screening by tandem mass spectrometry","volume":"156","author":"Ficicioglu","year":"2010","journal-title":"J. Pediatr."},{"key":"10.1016\/j.ymgme.2014.01.009_rf0115","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1016\/j.jpeds.2010.09.026","article-title":"A near-miss: very long chain acyl-CoA dehydrogenase deficiency with normal primary markers in the initial well-timed newborn screening specimen","volume":"158","author":"Sahai","year":"2011","journal-title":"J. Pediatr."},{"key":"10.1016\/j.ymgme.2014.01.009_or0005","unstructured":"author reply 172\u2013173"},{"key":"10.1016\/j.ymgme.2014.01.009_bb0120","doi-asserted-by":"crossref","first-page":"488","DOI":"10.1007\/s10545-009-1125-9","article-title":"Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop","volume":"32","author":"Spiekerkoetter","year":"2009","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2014.01.009_bb0125","doi-asserted-by":"crossref","first-page":"S242","DOI":"10.1097\/GIM.0b013e3181fe5d66","article-title":"The context and approach for the California newborn screening short- and long-term follow-up data system: preliminary findings","volume":"12","author":"Feuchtbaum","year":"2010","journal-title":"Genet. Med."},{"key":"10.1016\/j.ymgme.2014.01.009_bb0130","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.2014.01.009_bb0135","doi-asserted-by":"crossref","first-page":"648","DOI":"10.1038\/gim.2012.2","article-title":"Enhanced interpretation of newborn screening results without analyte cutoff values","volume":"14","author":"Marquardt","year":"2012","journal-title":"Genet. Med."},{"key":"10.1016\/j.ymgme.2014.01.009_bb0140","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1007\/s10545-010-9188-1","article-title":"Current issues regarding treatment of mitochondrial fatty acid oxidation disorders","volume":"33","author":"Spiekerkoetter","year":"2010","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2014.01.009_bb0150","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1086\/302261","article-title":"Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency","volume":"64","author":"Andresen","year":"1999","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2014.01.009_bb0155","doi-asserted-by":"crossref","first-page":"1065","DOI":"10.1542\/peds.2006-0666","article-title":"Neonatal screening for very long-chain acyl-coA dehydrogenase deficiency: enzymatic and molecular evaluation of neonates with elevated C14:1-carnitine levels","volume":"118","author":"Liebig","year":"2006","journal-title":"Pediatrics"},{"key":"10.1016\/j.ymgme.2014.01.009_bb0160","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1016\/j.jpeds.2010.07.031","article-title":"Prevalence and distribution of the c.1436C\u2192T sequence variant of carnitine palmitoyltransferase 1A among Alaska Native infants","volume":"158","author":"Gessner","year":"2011","journal-title":"J. Pediatr."},{"key":"10.1016\/j.ymgme.2014.01.009_bb0165","doi-asserted-by":"crossref","first-page":"668","DOI":"10.1016\/j.jpeds.2010.04.063","article-title":"Tandem mass spectrometry screening for very long-chain acyl-CoA dehydrogenase deficiency: the value of second-tier enzyme testing","volume":"157","author":"Spiekerkoetter","year":"2010","journal-title":"J. Pediatr."}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719214000353?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719214000353?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2020,8,14]],"date-time":"2020-08-14T14:01:46Z","timestamp":1597413706000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719214000353"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,4]]},"references-count":31,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2014,4]]}},"alternative-id":["S1096719214000353"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2014.01.009","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2014,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgme.2014.01.009","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2014 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}