{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,25]],"date-time":"2026-06-25T12:28:35Z","timestamp":1782390515153,"version":"3.54.5"},"reference-count":26,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"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":["Clinica Chimica Acta"],"published-print":{"date-parts":[[2024,1]]},"DOI":"10.1016\/j.cca.2023.117729","type":"journal-article","created":{"date-parts":[[2023,12,19]],"date-time":"2023-12-19T11:34:25Z","timestamp":1702985665000},"page":"117729","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":1,"special_numbering":"C","title":["Genetic analysis of isolated methylmalonic acidemia in Henan, China: c.1663G&gt;A variant of MMUT prevalent in the Henan population"],"prefix":"10.1016","volume":"553","author":[{"given":"Yaqing","family":"Guo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xinyun","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liying","family":"Song","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jinshuang","family":"Gao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erfeng","family":"Yuan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haiyang","family":"Yu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yang","family":"Fang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qianqian","family":"Shi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dehua","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linlin","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.cca.2023.117729_b0005","doi-asserted-by":"crossref","DOI":"10.1155\/2022\/5611697","article-title":"Impaired function of a rare mutation in the MMUT gene causes methylmalonic acidemia in a Chinese patient","volume":"2022","author":"Dai","year":"2022","journal-title":"Genet. Res."},{"issue":"25","key":"10.1016\/j.cca.2023.117729_b0010","doi-asserted-by":"crossref","first-page":"8952","DOI":"10.1080\/14767058.2021.2008351","article-title":"Prevalence of methylmalonic acidemia among newborns and the clinical-suspected population: a meta-analyse","volume":"35","author":"Jin","year":"2022","journal-title":"J. Maternal-Fetal Neonatal Med."},{"key":"10.1016\/j.cca.2023.117729_b0015","first-page":"5","article-title":"Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening","volume":"16","author":"Shibata","year":"2018","journal-title":"Mol. Genet. Metab. Rep."},{"issue":"3","key":"10.1016\/j.cca.2023.117729_b0020","first-page":"240","article-title":"[Screening for newborn organic aciduria in Zhejiang province:prevalence, outcome and follow-up], Zhejiang da xue xue bao","volume":"46","author":"Hong","year":"2017","journal-title":"J. Zhejiang Univ. Med. Sci."},{"key":"10.1016\/j.cca.2023.117729_b0025","first-page":"1052","article-title":"Expanded newborn screening for inborn errors of metabolism by tandem mass spectrometry in Suzhou, China: disease spectrum","volume":"10","author":"Wang","year":"2019","journal-title":"Prevalence, Genetic Charact. Chin. Popul., Front. Genet."},{"issue":"2","key":"10.1016\/j.cca.2023.117729_b0030","doi-asserted-by":"crossref","first-page":"73","DOI":"10.5582\/irdr.2018.01026","article-title":"Methylmalonic acidemia: current status and research priorities","volume":"7","author":"Zhou","year":"2018","journal-title":"Intractable Rare Dis. Res."},{"key":"10.1016\/j.cca.2023.117729_b0035","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1016\/j.cca.2019.12.022","article-title":"Newborn screening and diagnosis of inborn errors of metabolism: A 5-year study in an eastern Chinese population","volume":"502","author":"Yang","year":"2020","journal-title":"Clin. Chim. Acta"},{"issue":"6","key":"10.1016\/j.cca.2023.117729_b0040","first-page":"414","article-title":"Heterogeneous phenotypes, genotypes, treatment and prevention of 1003 patients with methylmalonic acidemia in the Mainland of China","volume":"56","author":"Liu","year":"2018","journal-title":"Chin. J. Pediatr."},{"key":"10.1016\/j.cca.2023.117729_b0045","doi-asserted-by":"crossref","first-page":"726","DOI":"10.3389\/fgene.2018.00726","article-title":"Newborn screening for methylmalonic acidemia in a Chinese population: molecular genetic confirmation and genotype phenotype correlations","volume":"9","author":"Zhou","year":"2018","journal-title":"Front. Genet."},{"issue":"3","key":"10.1016\/j.cca.2023.117729_b0050","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1007\/s10238-016-0435-0","article-title":"\u201cClassical organic acidurias\u201d: diagnosis and pathogenesis","volume":"17","author":"Villani","year":"2017","journal-title":"Clin. Exp. Med."},{"issue":"4","key":"10.1016\/j.cca.2023.117729_b0055","doi-asserted-by":"crossref","first-page":"896","DOI":"10.1038\/s41436-018-0272-5","article-title":"Combining newborn metabolic and DNA analysis for second-tier testing of methylmalonic acidemia","volume":"21","author":"Peng","year":"2019","journal-title":"Genet. Med."},{"issue":"6","key":"10.1016\/j.cca.2023.117729_b0060","first-page":"839","article-title":"Mapping of human methylmalonyl CoA mutase (MUT) locus on chromosome 6","volume":"42","author":"Ledley","year":"1988","journal-title":"Am. J. Hum. Genet."},{"issue":"49","key":"10.1016\/j.cca.2023.117729_b0065","doi-asserted-by":"crossref","first-page":"38204","DOI":"10.1074\/jbc.M110.177717","article-title":"Structures of the human GTPase MMAA and vitamin B12-dependent methylmalonyl-CoA mutase and insight into their complex formation","volume":"285","author":"Froese","year":"2010","journal-title":"J. Biol. Chem."},{"issue":"1","key":"10.1016\/j.cca.2023.117729_b0070","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1002\/humu.20258","article-title":"Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype","volume":"27","author":"Worgan","year":"2006","journal-title":"Hum. Mutat."},{"issue":"3","key":"10.1016\/j.cca.2023.117729_b0075","doi-asserted-by":"crossref","first-page":"266","DOI":"10.1007\/s12291-016-0600-y","article-title":"Mutation analyses in selected exons of the MUT gene in Indian patients with methylmalonic acidemia","volume":"32","author":"Kumari","year":"2017","journal-title":"Indian J. Clin. Biochem.: IJCB"},{"issue":"1","key":"10.1016\/j.cca.2023.117729_b0080","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1007\/s10038-006-0077-2","article-title":"Mutation and haplotype analyses of the MUT gene in Japanese patients with methylmalonic acidemia","volume":"52","author":"Sakamoto","year":"2007","journal-title":"J. Hum. Genet."},{"issue":"5","key":"10.1016\/j.cca.2023.117729_b0085","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."},{"issue":"11","key":"10.1016\/j.cca.2023.117729_b0090","doi-asserted-by":"crossref","first-page":"2197","DOI":"10.1016\/j.jmb.2019.04.009","article-title":"Can predicted protein 3D structures provide reliable insights into whether missense variants are disease associated?","volume":"431","author":"Ittisoponpisan","year":"2019","journal-title":"J. Mol. Biol."},{"issue":"W1","key":"10.1016\/j.cca.2023.117729_b0095","doi-asserted-by":"crossref","first-page":"W350","DOI":"10.1093\/nar\/gky300","article-title":"DynaMut: predicting the impact of mutations on protein conformation, flexibility and stability","volume":"46","author":"Rodrigues","year":"2018","journal-title":"Nucleic Acids Res."},{"issue":"4","key":"10.1016\/j.cca.2023.117729_b0100","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1007\/s12519-015-0043-1","article-title":"Clinical features and MUT gene mutation spectrum in Chinese patients with isolated methylmalonic acidemia: identification of ten novel allelic variants","volume":"11","author":"Han","year":"2015","journal-title":"World J. Pediatrics: WJP"},{"issue":"2","key":"10.1016\/j.cca.2023.117729_b0105","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1016\/j.tjog.2022.02.017","article-title":"The genotype analysis and prenatal genetic diagnosis among 244 pedigrees with methylmalonic aciduria in China","volume":"61","author":"Hu","year":"2022","journal-title":"Taiwan. J. Obstet. Gynecol."},{"issue":"3","key":"10.1016\/j.cca.2023.117729_b0110","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1002\/jimd.12183","article-title":"A study on a cohort of 301 Chinese patients with isolated methylmalonic acidemia","volume":"43","author":"Kang","year":"2020","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.cca.2023.117729_b0115","doi-asserted-by":"crossref","DOI":"10.1002\/mgg3.2152","article-title":"Incidence and genetic variants of inborn errors of metabolism identified through newborn screening: A 7-year study in eastern coastal areas of China","author":"Men","year":"2023","journal-title":"Mol. Genet. Genomic Med."},{"issue":"1","key":"10.1016\/j.cca.2023.117729_b0120","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1186\/s13023-020-01632-0","article-title":"A rare mutation c.1663G > A (p. A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients","volume":"16","author":"Liang","year":"2021","journal-title":"Orphanet. J. Rare Dis."},{"issue":"10","key":"10.1016\/j.cca.2023.117729_b0125","first-page":"1103","article-title":"Acute brainstem encephalitis and myelitis in a girl with isolated methylmalonic aciduria due to MUT gene defect","volume":"17","author":"Liu","year":"2015","journal-title":"Chin. J. Contemp. Pediatr."},{"issue":"11","key":"10.1016\/j.cca.2023.117729_b0130","doi-asserted-by":"crossref","first-page":"e1822","DOI":"10.1002\/mgg3.1822","article-title":"Different mutations in the MMUT gene are associated with the effect of vitamin B12 in a cohort of 266 Chinese patients with mut-type methylmalonic acidemia: A retrospective study","volume":"9","author":"Yu","year":"2021","journal-title":"Mol. Genet. Genomic Med."}],"container-title":["Clinica Chimica Acta"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0009898123005314?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0009898123005314?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,2]],"date-time":"2025-11-02T20:06:24Z","timestamp":1762113984000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0009898123005314"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,1]]},"references-count":26,"alternative-id":["S0009898123005314"],"URL":"https:\/\/doi.org\/10.1016\/j.cca.2023.117729","relation":{},"ISSN":["0009-8981"],"issn-type":[{"value":"0009-8981","type":"print"}],"subject":[],"published":{"date-parts":[[2024,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Genetic analysis of isolated methylmalonic acidemia in Henan, China: c.1663G>A variant of MMUT prevalent in the Henan population","name":"articletitle","label":"Article Title"},{"value":"Clinica Chimica Acta","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.cca.2023.117729","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"117729"}}