{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,24]],"date-time":"2026-08-24T13:55:05Z","timestamp":1787579705521,"version":"build-2736575974"},"reference-count":12,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2016,3,1]],"date-time":"2016-03-01T00:00:00Z","timestamp":1456790400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["mgmjournal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2016,3]]},"DOI":"10.1016\/j.ymgme.2016.01.008","type":"journal-article","created":{"date-parts":[[2016,1,23]],"date-time":"2016-01-23T11:31:07Z","timestamp":1453548667000},"page":"363-368","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":23,"title":["Added value of next generation gene panel analysis for patients with elevated methylmalonic acid and no clinical diagnosis following functional studies of vitamin B12 metabolism"],"prefix":"10.1016","volume":"117","author":[{"given":"Mihaela","family":"Pupavac","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xia","family":"Tian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jordan","family":"Chu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guoli","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanming","family":"Feng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stella","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Remington","family":"Fenter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victor W.","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Watkins","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lee-Jun","family":"Wong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David S.","family":"Rosenblatt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2016.01.008_bb0005","article-title":"Methylmalonic acidemia","author":"Manoli","year":"2010","journal-title":"GeneReviews"},{"key":"10.1016\/j.ymgme.2016.01.008_bb0010","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1016\/j.ymgme.2006.03.009","article-title":"Homozygous nonsense mutation in the MCEE gene and siRNA suppression of methylmalonyl-CoA epimerase expression: a novel cause of mild methylmalonic aciduria","volume":"88","author":"Dobson","year":"2006","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2016.01.008_bb0015","doi-asserted-by":"crossref","first-page":"1045","DOI":"10.1002\/humu.9507","article-title":"Atypical methylmalonic aciduria: frequency of mutations in the methylmalonyl CoA epimerase gene (MCEE)","volume":"28","author":"Gradinger","year":"2007","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymgme.2016.01.008_bb0020","doi-asserted-by":"crossref","first-page":"883","DOI":"10.1038\/ng.908","article-title":"Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria","volume":"43","author":"Sloan","year":"2011","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ymgme.2016.01.008_bb0025","doi-asserted-by":"crossref","first-page":"602","DOI":"10.1136\/jmedgenet-2011-100230","article-title":"Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype","volume":"48","author":"Alfares","year":"2011","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ymgme.2016.01.008_bb0030","doi-asserted-by":"crossref","first-page":"1019","DOI":"10.1016\/j.biochi.2013.01.013","article-title":"Lessons in biology from patients with inborn errors of vitamin B12 metabolism","volume":"95","author":"Watkins","year":"2013","journal-title":"Biochimie"},{"key":"10.1016\/j.ymgme.2016.01.008_bb0035","doi-asserted-by":"crossref","first-page":"510","DOI":"10.1136\/jmg.37.7.510","article-title":"Complementation studies in the cblA class of inborn error of cobalamin metabolism: evidence for interallelic complementation and for a new complementation class (cblH)","volume":"37","author":"Watkins","year":"2000","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ymgme.2016.01.008_bb0040","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1038\/gim.2014.80","article-title":"Improved molecular diagnosis by the detection of exonic deletions with target gene capture and deep sequencing","volume":"17","author":"Feng","year":"2015","journal-title":"Genet. Med."},{"key":"10.1016\/j.ymgme.2016.01.008_bb0045","doi-asserted-by":"crossref","first-page":"995","DOI":"10.1016\/j.biochi.2013.01.022","article-title":"Gastric intrinsic factor deficiency with combined GIF heterozygous mutations and FUT2 secretor variant","volume":"95","author":"Chery","year":"2013","journal-title":"Biochimie"},{"key":"10.1016\/j.ymgme.2016.01.008_bb0050","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1006\/mgme.2000.3066","article-title":"Synergistic heterozygosity: disease resulting from multiple partial defects in one or more metabolic pathways","volume":"71","author":"Vockley","year":"2000","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2016.01.008_bb0055","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1186\/1750-1172-7-56","article-title":"Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns","volume":"7","author":"Tanner","year":"2012","journal-title":"Orphanet. J. Rare Dis."},{"key":"10.1016\/j.ymgme.2016.01.008_bb0060","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1016\/j.ymgme.2013.04.020","article-title":"High resolution melting analysis of the MMAB gene in cblB patients and in those with undiagnosed methylmalonic aciduria","volume":"110","author":"Illson","year":"2013","journal-title":"Mol. Genet. Metab."}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719216300075?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719216300075?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,9,15]],"date-time":"2018-09-15T20:53:17Z","timestamp":1537044797000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719216300075"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,3]]},"references-count":12,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2016,3]]}},"alternative-id":["S1096719216300075"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2016.01.008","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2016,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Added value of next generation gene panel analysis for patients with elevated methylmalonic acid and no clinical diagnosis following functional studies of vitamin B12 metabolism","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgme.2016.01.008","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2016 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}