{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T18:49:52Z","timestamp":1780512592169,"version":"3.54.1"},"reference-count":66,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2023,11,1]],"date-time":"2023-11-01T00:00:00Z","timestamp":1698796800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,11,1]],"date-time":"2023-11-01T00:00:00Z","timestamp":1698796800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,8,5]],"date-time":"2024-08-05T00:00:00Z","timestamp":1722816000000},"content-version":"am","delay-in-days":278,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,11,1]],"date-time":"2023-11-01T00:00:00Z","timestamp":1698796800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2023,11,1]],"date-time":"2023-11-01T00:00:00Z","timestamp":1698796800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2023,11,1]],"date-time":"2023-11-01T00:00:00Z","timestamp":1698796800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2023,11,1]],"date-time":"2023-11-01T00:00:00Z","timestamp":1698796800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2023,11,1]],"date-time":"2023-11-01T00:00:00Z","timestamp":1698796800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["U24HG006834"],"award-info":[{"award-number":["U24HG006834"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["U24HG009650"],"award-info":[{"award-number":["U24HG009650"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["U24HG009649"],"award-info":[{"award-number":["U24HG009649"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2023,11]]},"DOI":"10.1016\/j.ymgme.2023.107668","type":"journal-article","created":{"date-parts":[[2023,7,26]],"date-time":"2023-07-26T18:40:55Z","timestamp":1690396855000},"page":"107668","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":10,"title":["Specifications of the ACMG\/AMP guidelines for ACADVL variant interpretation"],"prefix":"10.1016","volume":"140","author":[{"given":"May","family":"Flowers","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexa","family":"Dickson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcus J.","family":"Miller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine","family":"Spector","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gregory Mark","family":"Enns","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heather","family":"Baudet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marzia","family":"Pasquali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lemuel","family":"Racacho","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kianoush","family":"Sadre-Bazzaz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ting","family":"Wen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa","family":"Fogarty","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raquel","family":"Fernandez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meredith A.","family":"Weaver","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annette","family":"Feigenbaum","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brett H.","family":"Graham","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rong","family":"Mao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2023.107668_bb0005","series-title":"GeneReviews\u00ae","article-title":"Very long-chain acyl-coenzyme a dehydrogenase deficiency","author":"Leslie","year":"1993"},{"key":"10.1016\/j.ymgme.2023.107668_bb0010","doi-asserted-by":"crossref","first-page":"442","DOI":"10.1023\/A:1005504223140","article-title":"Disorders of mitochondrial fatty acyl-CoA \u03b2-oxidation","volume":"22","author":"Wanders","year":"1999","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2023.107668_bb0015","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.2023.107668_bb0020","doi-asserted-by":"crossref","first-page":"S1","DOI":"10.1097\/01.gim.0000223891.82390.ad","article-title":"Executive summary","volume":"8","author":"Watson","year":"2006","journal-title":"Genet. Med."},{"key":"10.1016\/j.ymgme.2023.107668_bb0025","doi-asserted-by":"crossref","first-page":"1800","DOI":"10.1016\/S0002-8223(02)90386-X","article-title":"Management of fatty acid oxidation disorders: a survey of current treatment strategies","volume":"102","author":"Solis","year":"2002","journal-title":"J. Am. Diet. Assoc."},{"key":"10.1016\/j.ymgme.2023.107668_bb0030","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1016\/j.ymgme.2011.09.030","article-title":"Substrate oxidation and cardiac performance during exercise in disorders of long chain fatty acid oxidation","volume":"105","author":"Behrend","year":"2012","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2023.107668_bb0035","doi-asserted-by":"crossref","first-page":"831","DOI":"10.1007\/s10545-017-0085-8","article-title":"Triheptanoin versus trioctanoin for long-chain fatty acid oxidation disorders: a double blinded, randomized controlled trial","volume":"40","author":"Gillingham","year":"2017","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2023.107668_bb0040","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1016\/j.ymgme.2016.08.008","article-title":"Triheptanoin treatment in patients with pediatric cardiomyopathy associated with long chain-fatty acid oxidation disorders","volume":"119","author":"Vockley","year":"2016","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2023.107668_bb0045","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1007\/s10545-010-9090-x","article-title":"Mitochondrial fatty acid oxidation disorders: clinical presentation of long-chain fatty acid oxidation defects before and after newborn screening","volume":"33","author":"Spiekerkoetter","year":"2010","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2023.107668_bb0050","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1007\/s10545-011-9391-8","article-title":"VLCAD enzyme activity determinations in newborns identified by screening: a valuable tool for risk assessment","volume":"35","author":"Hoffmann","year":"2012","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2023.107668_bb0055","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.2023.107668_bb0060","doi-asserted-by":"crossref","first-page":"542","DOI":"10.1373\/clinchem.2007.098434","article-title":"Second-tier test for quantification of alloisoleucine and branched-chain amino acids in dried blood spots to improve newborn screening for maple syrup urine disease (MSUD)","volume":"54","author":"Oglesbee","year":"2008","journal-title":"Clin. Chem."},{"key":"10.1016\/j.ymgme.2023.107668_bb0065","author":"Newborn Screening ACT Sheets and Algorithms"},{"key":"10.1016\/j.ymgme.2023.107668_bb0070","doi-asserted-by":"crossref","first-page":"D980","DOI":"10.1093\/nar\/gkt1113","article-title":"ClinVar: public archive of relationships among sequence variation and human phenotype","volume":"42","author":"Landrum","year":"2014","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ymgme.2023.107668_bb0075","doi-asserted-by":"crossref","first-page":"D835","DOI":"10.1093\/nar\/gkz972","article-title":"ClinVar: improvements to accessing data","volume":"48","author":"Landrum","year":"2020","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ymgme.2023.107668_bb0080","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1038\/gim.2016.67","article-title":"Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing","volume":"19","author":"Narravula","year":"2017","journal-title":"Genet. Med."},{"key":"10.1016\/j.ymgme.2023.107668_bb0085","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1126\/science.1243944","article-title":"Medicine. Newborn screening: gaps in the evidence","volume":"342","author":"Wilcken","year":"2013","journal-title":"Science"},{"key":"10.1016\/j.ymgme.2023.107668_bb0090","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1002\/jimd.12492","article-title":"Characterization of exonic variants of uncertain significance in very long-chain acyl-CoA dehydrogenase identified through newborn screening","volume":"45","author":"D\u2019Annibale","year":"2022","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2023.107668_bb0095","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"ACMG laboratory quality assurance committee, standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"key":"10.1016\/j.ymgme.2023.107668_bb0100","doi-asserted-by":"crossref","first-page":"1067","DOI":"10.1016\/j.ajhg.2016.03.024","article-title":"Performance of ACMG-AMP variant-interpretation guidelines among nine Laboratories in the Clinical Sequencing Exploratory Research Consortium","volume":"98","author":"Amendola","year":"2016","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2023.107668_bb0105","doi-asserted-by":"crossref","first-page":"932","DOI":"10.1016\/j.ajhg.2020.09.011","article-title":"Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies","volume":"107","author":"Amendola","year":"2020","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2023.107668_bb0110","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1016\/j.gde.2017.01.001","article-title":"The current state of clinical interpretation of sequence variants","volume":"42","author":"Hoskinson","year":"2017","journal-title":"Curr. Opin. Genet. Dev."},{"key":"10.1016\/j.ymgme.2023.107668_bb0115","doi-asserted-by":"crossref","first-page":"421","DOI":"10.3343\/alm.2019.39.5.421","article-title":"Challenges and considerations in sequence variant interpretation for Mendelian disorders","volume":"39","author":"Kim","year":"2019","journal-title":"Ann. Lab. Med."},{"key":"10.1016\/j.ymgme.2023.107668_bb0120","doi-asserted-by":"crossref","first-page":"1525","DOI":"10.1002\/humu.23642","article-title":"ClinGen sequence variant interpretation working group, updated recommendation for the benign stand-alone ACMG\/AMP criterion","volume":"39","author":"Ghosh","year":"2018","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymgme.2023.107668_bb0125","doi-asserted-by":"crossref","first-page":"829","DOI":"10.1136\/jmedgenet-2019-106759","article-title":"CanVIG-UK, Cancer variant interpretation group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network","volume":"57","author":"Garrett","year":"2020","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ymgme.2023.107668_bb0130","doi-asserted-by":"crossref","first-page":"2235","DOI":"10.1056\/NEJMsr1406261","article-title":"ClinGen, ClinGen--the clinical genome resource","volume":"372","author":"Rehm","year":"2015","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.ymgme.2023.107668_bb0135","doi-asserted-by":"crossref","first-page":"1614","DOI":"10.1002\/humu.23645","article-title":"ClinGen variant curation expert panel experiences and standardized processes for disease and gene-level specification of the ACMG\/AMP guidelines for sequence variant interpretation","volume":"39","author":"Rivera-Mu\u00f1oz","year":"2018","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymgme.2023.107668_bb0140","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1038\/gim.2017.218","article-title":"Adaptation and validation of the ACMG\/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen\u2019s inherited cardiomyopathy expert panel","volume":"20","author":"Kelly","year":"2018","journal-title":"Genet. Med."},{"key":"10.1016\/j.ymgme.2023.107668_bb0145","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1016\/j.ymgme.2015.08.011","article-title":"Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States","volume":"116","author":"Miller","year":"2015","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2023.107668_bb0150","doi-asserted-by":"crossref","first-page":"877","DOI":"10.1016\/j.ajhg.2016.08.016","article-title":"REVEL: an ensemble method for predicting the pathogenicity of rare missense variants","volume":"99","author":"Ioannidis","year":"2016","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2023.107668_bb0155","doi-asserted-by":"crossref","first-page":"2163","DOI":"10.1016\/j.ajhg.2022.10.013","article-title":"ClinGen sequence variant interpretation working group, calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3\/BP4 criteria","volume":"109","author":"Pejaver","year":"2022","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2023.107668_bb0160","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1016\/j.gim.2021.09.012","article-title":"ClinGen familial hypercholesterolemia expert panel, the clinical genome resource (ClinGen) familial hypercholesterolemia variant curation expert panel consensus guidelines for LDLR variant classification","volume":"24","author":"Chora","year":"2022","journal-title":"Genet. Med."},{"key":"10.1016\/j.ymgme.2023.107668_bb0165","doi-asserted-by":"crossref","first-page":"1288","DOI":"10.1038\/s41436-021-01125-w","article-title":"Variant curation expert panel recommendations for RYR1 pathogenicity classifications in malignant hyperthermia susceptibility","volume":"23","author":"Johnston","year":"2021","journal-title":"Genet. Med."},{"key":"10.1016\/j.ymgme.2023.107668_bb0170","doi-asserted-by":"crossref","DOI":"10.1155\/2023\/9537832","article-title":"Specifications of the ACMG\/AMP variant classification guidelines for germline DICER1 variant curation","volume":"2023","author":"Hatton","year":"2023","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymgme.2023.107668_bb0175","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1016\/j.cell.2018.12.015","article-title":"Farh, predicting splicing from primary sequence with deep learning","volume":"176","author":"Jaganathan","year":"2019","journal-title":"Cell."},{"key":"10.1016\/j.ymgme.2023.107668_bb0180","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1089\/cmb.1997.4.311","article-title":"Improved splice site detection in genie","volume":"4","author":"Reese","year":"1997","journal-title":"J. Comput. Biol."},{"key":"10.1016\/j.ymgme.2023.107668_bb0185","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1089\/1066527041410418","article-title":"Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals","volume":"11","author":"Yeo","year":"2004","journal-title":"J. Comput. Biol."},{"key":"10.1016\/j.ymgme.2023.107668_bb0190","doi-asserted-by":"crossref","first-page":"1517","DOI":"10.1002\/humu.23626","article-title":"ClinGen sequence variant interpretation working group (ClinGen SVI), recommendations for interpreting the loss of function PVS1 ACMG\/AMP variant criterion","volume":"39","author":"Abou Tayoun","year":"2018","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymgme.2023.107668_bb0195","doi-asserted-by":"crossref","first-page":"9435","DOI":"10.1074\/jbc.M709135200","article-title":"Structural basis for substrate fatty acyl chain specificity: crystal structure of human very-long-chain acyl-CoA dehydrogenase","volume":"283","author":"McAndrew","year":"2008","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ymgme.2023.107668_bb0200","first-page":"478","article-title":"Compared effects of missense mutations in very-long-chain acyl-CoA dehydrogenase deficiency: combined analysis by structural, functional and pharmacological approaches","volume":"2010","author":"Gobin-Limballe","year":"1802","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.ymgme.2023.107668_bb0205","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.2023.107668_bb0210","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1186\/s13073-019-0690-2","article-title":"Clinical genome resource sequence variant interpretation working group, recommendations for application of the functional evidence PS3\/BS3 criterion using the ACMG\/AMP sequence variant interpretation framework","volume":"12","author":"Brnich","year":"2019","journal-title":"Genom. Med."},{"key":"10.1016\/j.ymgme.2023.107668_bb0215","article-title":"False positive cases of elevated tetradecenoyl carnitine in newborn mass screening showed significant loss of body weight","volume":"24","author":"Bo","year":"2020","journal-title":"Mol. Genet. Metab. Rep."},{"key":"10.1016\/j.ymgme.2023.107668_bb0220","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1016\/j.ymgme.2016.05.007","article-title":"Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database","volume":"118","author":"Pena","year":"2016","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2023.107668_bb0225","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1016\/j.ymgme.2019.04.001","article-title":"Clinical and biochemical outcome of patients with very long-chain acyl-CoA dehydrogenase deficiency","volume":"127","author":"Rovelli","year":"2019","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2023.107668_bb0230","doi-asserted-by":"crossref","first-page":"484","DOI":"10.1016\/j.ymgme.2014.01.009","article-title":"Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening","volume":"111","author":"Merritt","year":"2014","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2023.107668_bb0235","first-page":"101","article-title":"The newborn screening paradox: sensitivity vs. overdiagnosis in VLCAD deficiency","volume":"27","author":"Diekman","year":"2016","journal-title":"JIMD Rep."},{"key":"10.1016\/j.ymgme.2023.107668_bb0240","doi-asserted-by":"crossref","first-page":"1593","DOI":"10.1002\/humu.23630","article-title":"ClinGen hearing loss clinical domain working group, expert specification of the ACMG\/AMP variant interpretation guidelines for genetic hearing loss","volume":"39","author":"Oza","year":"2018","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymgme.2023.107668_bb0245","article-title":"ClinGen variant curation Interface: a variant classification platform for the application of evidence criteria from ACMG\/AMP guidelines","volume":"14","author":"Cg","year":"2022","journal-title":"Genom. Med."},{"key":"10.1016\/j.ymgme.2023.107668_bb0250","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.2023.107668_bb0255","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.2023.107668_bb0260","article-title":"Serum C14:1\/C12:1 ratio is a useful marker for differentiating affected patients with very long-chain acyl-CoA dehydrogenase deficiency from heterozygous carriers","volume":"21","author":"Yamada","year":"2019","journal-title":"Mol. Genet. Metab. Rep."},{"key":"10.1016\/j.ymgme.2023.107668_bb0265","doi-asserted-by":"crossref","first-page":"816","DOI":"10.1038\/s41436-020-01070-0","article-title":"Impact of newborn screening on the reported incidence and clinical outcomes associated with medium- and long-chain fatty acid oxidation disorders","volume":"23","author":"Marsden","year":"2021","journal-title":"Genet. Med."},{"key":"10.1016\/j.ymgme.2023.107668_bb0270","doi-asserted-by":"crossref","first-page":"1169","DOI":"10.1007\/s10545-018-0245-5","article-title":"The diagnostic challenge in very-long chain acyl-CoA dehydrogenase deficiency (VLCADD)","volume":"41","author":"Hesse","year":"2018","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2023.107668_bb0275","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.2023.107668_bb0280","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1016\/j.ymgme.2013.02.002","article-title":"Molecular and cellular pathology of very-long-chain acyl-CoA dehydrogenase deficiency","volume":"109","author":"Schiff","year":"2013","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2023.107668_bb0285","doi-asserted-by":"crossref","first-page":"1391","DOI":"10.1038\/s41390-022-01979-z","article-title":"Severity estimation of very-long-chain acyl-CoA dehydrogenase deficiency via 13C-fatty acid loading test","volume":"92","author":"Sugihara","year":"2022","journal-title":"Pediatr. Res."},{"key":"10.1016\/j.ymgme.2023.107668_bb0290","doi-asserted-by":"crossref","DOI":"10.1002\/jimd.12591","article-title":"Validation of a targeted metabolomics panel for improved second-tier newborn screening","author":"Mak","year":"2023","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2023.107668_bb0295","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1016\/j.ymgme.2005.12.012","article-title":"VLCAD 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.2023.107668_bb0300","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1203\/00006450-200102000-00016","article-title":"Myopathic form of very-long chain acyl-coa dehydrogenase deficiency: evidence for temperature-sensitive mild mutations in both mutant alleles in a Japanese girl","volume":"49","author":"Fukao","year":"2001","journal-title":"Pediatr. Res."},{"key":"10.1016\/j.ymgme.2023.107668_bb0305","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1002\/humu.1174","article-title":"Mutation analysis in mitochondrial fatty acid oxidation defects: exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship","volume":"18","author":"Gregersen","year":"2001","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymgme.2023.107668_bb0310","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1016\/j.ymgme.2022.03.009","article-title":"The frequencies of very long-chain acyl-CoA dehydrogenase deficiency genetic variants in Japan have changed since the implementation of expanded newborn screening","volume":"136","author":"Osawa","year":"2022","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2023.107668_bb0315","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1006\/mgme.2002.3297","article-title":"Identification and characterization of temperature-sensitive mild mutations in three Japanese patients with nonsevere forms of very-long-chain acyl-CoA dehydrogenase deficiency","volume":"75","author":"Takusa","year":"2002","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2023.107668_bb0320","first-page":"113","article-title":"Lethal undiagnosed very long-chain acyl-CoA dehydrogenase deficiency with mild C14-Acylcarnitine abnormalities on newborn screening","volume":"6","author":"Spiekerkoetter","year":"2012","journal-title":"JIMD Rep."},{"key":"10.1016\/j.ymgme.2023.107668_bb0325","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1093\/hmg\/5.4.461","article-title":"Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different mutations within the VLCAD gene","volume":"5","author":"Andresen","year":"1996","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ymgme.2023.107668_bb0330","doi-asserted-by":"crossref","first-page":"1569","DOI":"10.1002\/humu.23649","article-title":"ClinGen inborn errors of metabolism working group, unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): the ClinGen IEM working group and the phenylalanine hydroxylase gene","volume":"39","author":"Zastrow","year":"2018","journal-title":"Hum. Mutat."}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719223002986?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719223002986?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,12,26]],"date-time":"2024-12-26T17:13:40Z","timestamp":1735233220000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719223002986"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,11]]},"references-count":66,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2023,11]]}},"alternative-id":["S1096719223002986"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2023.107668","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2023,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Specifications of the ACMG\/AMP guidelines for ACADVL variant interpretation","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgme.2023.107668","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"107668"}}