{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T20:10:46Z","timestamp":1791231046340,"version":"4.1.0"},"reference-count":42,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2024,5,1]],"date-time":"2024-05-01T00:00:00Z","timestamp":1714521600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,5,1]],"date-time":"2024-05-01T00:00:00Z","timestamp":1714521600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,5,1]],"date-time":"2024-05-01T00:00:00Z","timestamp":1714521600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2024,5,1]],"date-time":"2024-05-01T00:00:00Z","timestamp":1714521600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2024,5,1]],"date-time":"2024-05-01T00:00:00Z","timestamp":1714521600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2024,5,1]],"date-time":"2024-05-01T00:00:00Z","timestamp":1714521600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2024,5,1]],"date-time":"2024-05-01T00:00:00Z","timestamp":1714521600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2024,5]]},"DOI":"10.1016\/j.ymgme.2024.108345","type":"journal-article","created":{"date-parts":[[2024,2,10]],"date-time":"2024-02-10T16:24:41Z","timestamp":1707582281000},"page":"108345","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":8,"title":["The MMACHC variant c.158T&gt;C: Mild clinical and biochemical phenotypes and marked hydroxocobalamin response in cblC patients"],"prefix":"10.1016","volume":"142","author":[{"given":"Tanguy","family":"Demaret","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karine","family":"B\u00e9dard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Fran\u00e7ois","family":"Soucy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Watkins","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre","family":"Allard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alina","family":"Levtova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alan","family":"O'Brien","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Brunel-Guitton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David S.","family":"Rosenblatt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Grant A.","family":"Mitchell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2024.108345_bb0005","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1002\/ajmg.c.30288","article-title":"Inborn errors of cobalamin absorption and metabolism","volume":"157C","author":"Watkins","year":"2011","journal-title":"Am. J. Med. Genet. C: Semin. Med. Genet."},{"key":"10.1016\/j.ymgme.2024.108345_bb0010","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1007\/s10545-011-9364-y","article-title":"Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management","volume":"35","author":"Carrillo-Carrasco","year":"2012","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2024.108345_bb0015","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1038\/ng1683","article-title":"Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type","volume":"38","author":"Lerner-Ellis","year":"2006","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ymgme.2024.108345_bb0020","doi-asserted-by":"crossref","first-page":"1072","DOI":"10.1002\/humu.21001","article-title":"Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations","volume":"30","author":"Lerner-Ellis","year":"2009","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymgme.2024.108345_bb0025","doi-asserted-by":"crossref","first-page":"831","DOI":"10.1007\/s10545-014-9687-6","article-title":"Clinical presentation and outcome in a series of 88 patients with the cblC defect","volume":"37","author":"Fischer","year":"2014","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2024.108345_bb0030","doi-asserted-by":"crossref","first-page":"675","DOI":"10.1016\/S0022-3476(99)70280-5","article-title":"Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program","volume":"134","author":"Sniderman","year":"1999","journal-title":"J. Pediatr."},{"key":"10.1016\/j.ymgme.2024.108345_bb0035","doi-asserted-by":"crossref","first-page":"528","DOI":"10.1023\/A:1005353530303","article-title":"Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC)","volume":"20","author":"Rosenblatt","year":"1997","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2024.108345_bb0040","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1186\/s13023-022-02179-y","article-title":"Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists","volume":"17","author":"Kalantari","year":"2022","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.ymgme.2024.108345_bb0045","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1016\/j.pediatrneurol.2010.04.007","article-title":"Early onset methylmalonic aciduria and homocystinuria cblC type with demyelinating neuropathy","volume":"43","author":"Frattini","year":"2010","journal-title":"Pediatr. Neurol."},{"key":"10.1016\/j.ymgme.2024.108345_bb0050","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1097\/00125817-199905000-00006","article-title":"Long-term outcome in treated combined methylmalonic acidemia and homocystinemia","volume":"1","author":"Andersson","year":"1999","journal-title":"Genet. Med."},{"key":"10.1016\/j.ymgme.2024.108345_bb0055","doi-asserted-by":"crossref","first-page":"266","DOI":"10.1002\/pd.2218","article-title":"Fetal dilated cardiomyopathy: an unsuspected presentation of methylmalonic aciduria and hyperhomocystinuria, cblC type","volume":"29","author":"De Bie","year":"2009","journal-title":"Prenat. Diagn."},{"key":"10.1016\/j.ymgme.2024.108345_bb0060","article-title":"Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomes","volume":"35","author":"Carrillo-Carrasco","year":"2012","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2024.108345_bb0065","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1016\/j.ymgme.2006.04.001","article-title":"Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations","volume":"88","author":"Morel","year":"2006","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2024.108345_bb0070","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1016\/j.ymgme.2017.06.011","article-title":"Milder clinical and biochemical phenotypes associated with the c.482G>A (p.Arg161Gln) pathogenic variant in cobalamin C disease: implications for management and screening","volume":"122","author":"Almannai","year":"2017","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2024.108345_bb0075","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1038\/s41467-017-02306-5","article-title":"A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients","volume":"9","author":"Gu\u00e9ant","year":"2018","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ymgme.2024.108345_bb0080","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1007\/s10545-016-9991-4","article-title":"Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency","volume":"40","author":"Huemer","year":"2017","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2024.108345_bb0085","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1023\/A:1025115405074","article-title":"Newborn urine screening programme in the province of Quebec: an update of 30 years\u2019 experience","volume":"26","author":"Auray-Blais","year":"2003","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2024.108345_bb0090","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1016\/j.biochi.2016.05.001","article-title":"Lessons in biology from patients with inherited disorders of vitamin B12 and folate metabolism","volume":"126","author":"Watkins","year":"2016","journal-title":"Biochimie"},{"key":"10.1016\/j.ymgme.2024.108345_bb0095","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1016\/j.ophtha.2013.08.034","article-title":"Long-term visual outcome of methylmalonic aciduria and homocystinuria, cobalamin C type","volume":"121","author":"Gizicki","year":"2014","journal-title":"Ophthalmology"},{"key":"10.1016\/j.ymgme.2024.108345_bb0100","first-page":"19","article-title":"A highly diverse portrait: heterogeneity of neuropsychological profiles in cblC defect","volume":"29","author":"Bellerose","year":"2016","journal-title":"JIMD Rep"},{"issue":"Suppl. 3","key":"10.1016\/j.ymgme.2024.108345_bb0105","doi-asserted-by":"crossref","first-page":"S409","DOI":"10.1007\/s10545-010-9202-7","article-title":"Treatment of cobalamin C (cblC) deficiency during pregnancy","volume":"33","author":"Brunel-Guitton","year":"2010","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2024.108345_bb0110","doi-asserted-by":"crossref","first-page":"1034","DOI":"10.1101\/gr.3715005","article-title":"Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes","volume":"15","author":"Siepel","year":"2005","journal-title":"Genome Res."},{"key":"10.1016\/j.ymgme.2024.108345_bb0115","series-title":"Research in Computational Molecular Biology","first-page":"190","article-title":"New methods for detecting lineage-specific selection","author":"Siepel","year":"2006"},{"key":"10.1016\/j.ymgme.2024.108345_bb0120","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.2024.108345_bb0125","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0046688","article-title":"Predicting the functional effect of amino acid substitutions and indels","volume":"7","author":"Choi","year":"2012","journal-title":"PLoS One"},{"key":"10.1016\/j.ymgme.2024.108345_bb0130","doi-asserted-by":"crossref","first-page":"W446","DOI":"10.1093\/nar\/gkab266","article-title":"MutationTaster2021","volume":"49","author":"Steinhaus","year":"2021","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ymgme.2024.108345_bb0135","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":"4","author":"Kumar","year":"2009","journal-title":"Nat. Protoc."},{"key":"10.1016\/j.ymgme.2024.108345_bb0140","doi-asserted-by":"crossref","first-page":"D886","DOI":"10.1093\/nar\/gky1016","article-title":"CADD: predicting the deleteriousness of variants throughout the human genome","volume":"47","author":"Rentzsch","year":"2019","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ymgme.2024.108345_bb0145","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.2024.108345_bb0150","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1002\/humu.23158","article-title":"PERCH: a unified framework for disease gene prioritization","volume":"38","author":"Feng","year":"2017","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymgme.2024.108345_bb0155","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"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.2024.108345_bb0160","doi-asserted-by":"crossref","first-page":"504","DOI":"10.1016\/0046-8177(92)90127-O","article-title":"A congenital anomaly of vitamin B12 metabolism: a study of three cases","volume":"23","author":"Russo","year":"1992","journal-title":"Hum. Pathol."},{"key":"10.1016\/j.ymgme.2024.108345_bb0165","doi-asserted-by":"crossref","first-page":"633","DOI":"10.1111\/j.1365-2796.1994.tb00856.x","article-title":"Homocysteine and cysteine: determinants of plasma levels in middle-aged and elderly subjects","volume":"236","author":"Brattstr\u00f6m","year":"1994","journal-title":"J. Intern. Med."},{"key":"10.1016\/j.ymgme.2024.108345_bb0170","doi-asserted-by":"crossref","first-page":"506","DOI":"10.1016\/j.ajhg.2013.07.022","article-title":"An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1","volume":"93","author":"Yu","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2024.108345_bb0175","doi-asserted-by":"crossref","first-page":"204","DOI":"10.1038\/nrg3354","article-title":"DNA methylation: roles in mammalian development","volume":"14","author":"Smith","year":"2013","journal-title":"Nat. Rev. Genet."},{"key":"10.1016\/j.ymgme.2024.108345_bb0180","doi-asserted-by":"crossref","DOI":"10.15252\/embj.2020107100","article-title":"De novo DNA methylation controls neuronal maturation during adult hippocampal neurogenesis","volume":"40","author":"Zocher","year":"2021","journal-title":"EMBO J."},{"key":"10.1016\/j.ymgme.2024.108345_bb0185","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1186\/s13023-022-02471-x","article-title":"Late-onset cblC deficiency around puberty: a retrospective study of the clinical characteristics, diagnosis, and treatment","volume":"17","author":"Chen","year":"2022","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.ymgme.2024.108345_bb0190","article-title":"Neurodevelopmental and neuropsychiatric disorders in cobalamin C disease: a case report and review of the literature","volume":"8","author":"Nguyen","year":"2022","journal-title":"Cold Spring Harb Mol Case Stud"},{"key":"10.1016\/j.ymgme.2024.108345_bb0195","first-page":"17","article-title":"High-dose hydroxocobalamin achieves biochemical correction and improvement of neuropsychiatric deficits in adults with late onset cobalamin C deficiency","volume":"51","author":"Higashimoto","year":"2020","journal-title":"JIMD Rep"},{"key":"10.1016\/j.ymgme.2024.108345_bb0200","doi-asserted-by":"crossref","first-page":"e1709","DOI":"10.1542\/peds.2013-2711","article-title":"Cobalamin C deficiency in an adolescent with altered mental status and anorexia","volume":"134","author":"Rahmandar","year":"2014","journal-title":"Pediatrics"},{"key":"10.1016\/j.ymgme.2024.108345_bb0205","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1002\/ana.78","article-title":"Neurological and neuropathologic heterogeneity in two brothers with cobalamin C deficiency","volume":"49","author":"Powers","year":"2001","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.ymgme.2024.108345_bb0210","doi-asserted-by":"crossref","first-page":"1457","DOI":"10.1001\/archneur.60.10.1457","article-title":"Neuropsychiatric disturbances in presumed late-onset cobalamin C disease","volume":"60","author":"Roze","year":"2003","journal-title":"Arch. Neurol."}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719224002300?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719224002300?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,12,26]],"date-time":"2024-12-26T17:15:32Z","timestamp":1735233332000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719224002300"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,5]]},"references-count":42,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2024,5]]}},"alternative-id":["S1096719224002300"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2024.108345","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2024,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"The MMACHC variant c.158T>C: Mild clinical and biochemical phenotypes and marked hydroxocobalamin response in cblC patients","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgme.2024.108345","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"108345"}}