{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T02:24:45Z","timestamp":1789179885480,"version":"build-2803163510"},"reference-count":28,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2021,8,1]],"date-time":"2021-08-01T00:00:00Z","timestamp":1627776000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,8,1]],"date-time":"2021-08-01T00:00:00Z","timestamp":1627776000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2021,8,1]],"date-time":"2021-08-01T00:00:00Z","timestamp":1627776000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2021,8,1]],"date-time":"2021-08-01T00:00:00Z","timestamp":1627776000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2021,8,1]],"date-time":"2021-08-01T00:00:00Z","timestamp":1627776000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2021,8,1]],"date-time":"2021-08-01T00:00:00Z","timestamp":1627776000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2021,8,1]],"date-time":"2021-08-01T00:00:00Z","timestamp":1627776000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/501100011496","name":"Changsha Science and Technology Bureau","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100011496","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Clinica Chimica Acta"],"published-print":{"date-parts":[[2021,8]]},"DOI":"10.1016\/j.cca.2021.03.019","type":"journal-article","created":{"date-parts":[[2021,3,31]],"date-time":"2021-03-31T07:25:25Z","timestamp":1617175525000},"page":"18-25","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":5,"special_numbering":"C","title":["Novel variants of the PCCB gene in Chinese patients with propionic acidemia"],"prefix":"10.1016","volume":"519","author":[{"given":"Xiaoxuan","family":"Yang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dongyan","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chaofeng","family":"Tu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenbing","family":"He","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lanlan","family":"Meng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yue-Qiu","family":"Tan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guangxiu","family":"Lu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan","family":"Du","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qianjun","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"1","key":"10.1016\/j.cca.2021.03.019_b0005","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1172\/JCI106466","article-title":"Inherited propionyl-Coa carboxylase deficiency in \u201cketotic hyperglycinemia\u201d","volume":"50","author":"Hsia","year":"1971","journal-title":"J. Clin. Investig."},{"key":"10.1016\/j.cca.2021.03.019_b0010","first-page":"22","article-title":"Spectrum of mutations underlying Propionic acidemia and further insight into a genotype-phenotype correlation for the common mutation in Saudi Arabia","volume":"18","author":"Al-Hamed","year":"2019","journal-title":"Mol. Genet. Metab. Rep."},{"issue":"2\u20133","key":"10.1016\/j.cca.2021.03.019_b0015","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1007\/s10545-006-0278-z","article-title":"'Classical' organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: long-term outcome and effects of expanded newborn screening using tandem mass spectrometry","volume":"29","author":"Dionisi-Vici","year":"2006","journal-title":"J. Inherit. Metab. Dis."},{"issue":"6","key":"10.1016\/j.cca.2021.03.019_b0020","doi-asserted-by":"crossref","first-page":"809","DOI":"10.1016\/j.metabol.2003.12.025","article-title":"Propionic acidemia: Unusual course with late onset and fatal outcome","volume":"53","author":"Lucke","year":"2004","journal-title":"Metab.-Clin. Exp."},{"issue":"3","key":"10.1016\/j.cca.2021.03.019_b0025","first-page":"566","article-title":"Establishing gas chromatography - mass spectrometry to diagnose organic acidemias in Thailand","volume":"31","author":"Srivuthana","year":"2000","journal-title":"Southeast Asian J. Trop. Med. Public Health"},{"issue":"12","key":"10.1016\/j.cca.2021.03.019_b0030","doi-asserted-by":"crossref","first-page":"7245","DOI":"10.1016\/S0021-9258(18)32164-1","article-title":"Biosynthesis and mitochondrial processing of the \u03b2 subunit of propionyl CoA carboxylase from rat liver","volume":"258","author":"Kraus","year":"1983","journal-title":"J. Biol. Chem."},{"issue":"1","key":"10.1016\/j.cca.2021.03.019_b0035","doi-asserted-by":"crossref","DOI":"10.1016\/S0307-4412(96)80019-7","article-title":"The metabolic and molecular bases of inherited disease seventh edition: Edited by C R Sriver, A L Beaudet, W S Sly and D Valle. P 4605. McGraw-Hill, New York. 1995. ISBN 0-07-909826-6","volume":"24","author":"Vella","year":"1996","journal-title":"Biochem. Educ."},{"issue":"1\u20132","key":"10.1016\/j.cca.2021.03.019_b0040","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1006\/mgme.2001.3210","article-title":"Structure of the PCCA gene and distribution of mutations causing propionic acidemia","volume":"74","author":"Campeau","year":"2001","journal-title":"Mol. Genet. Metab."},{"issue":"13","key":"10.1016\/j.cca.2021.03.019_b0045","doi-asserted-by":"crossref","first-page":"4864","DOI":"10.1073\/pnas.83.13.4864","article-title":"Isolation of cDNA clones coding for the alpha and beta chains of human propionyl-CoA carboxylase: chromosomal assignments and DNA polymorphisms associated with PCCA and PCCB genes","volume":"83","author":"Lamhonwah","year":"1986","journal-title":"PNAS"},{"issue":"4","key":"10.1016\/j.cca.2021.03.019_b0050","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1002\/(SICI)1098-1004(199910)14:4<275::AID-HUMU1>3.0.CO;2-N","article-title":"Overview of mutations in the PCCA and PCCB genes causing propionic acidemia","volume":"14","author":"Ugarte","year":"1999","journal-title":"Hum. Mutat."},{"issue":"5","key":"10.1016\/j.cca.2021.03.019_b0055","first-page":"412","article-title":"Feasibility of DNA based methods for prenatal diagnosis and carrier detection of propionic acidaemia","volume":"36","author":"Muro","year":"1999","journal-title":"J. Med. Genet."},{"issue":"1","key":"10.1016\/j.cca.2021.03.019_b0060","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1016\/j.ymgme.2011.09.022","article-title":"Natural history of propionic acidemia","volume":"105","author":"Pena","year":"2012","journal-title":"Mol. Genet. Metab."},{"issue":"4","key":"10.1016\/j.cca.2021.03.019_b0065","doi-asserted-by":"crossref","first-page":"942","DOI":"10.1016\/j.ajhg.2016.08.004","article-title":"Biallelic SUN5 mutations cause autosomal-recessive acephalic spermatozoa syndrome","volume":"99","author":"Zhu","year":"2016","journal-title":"Am. J. Hum. Genet."},{"issue":"9","key":"10.1016\/j.cca.2021.03.019_b0070","doi-asserted-by":"crossref","first-page":"1297","DOI":"10.1101\/gr.107524.110","article-title":"The genome analysis toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data","volume":"20","author":"McKenna","year":"2010","journal-title":"Genome Res."},{"issue":"14","key":"10.1016\/j.cca.2021.03.019_b0075","doi-asserted-by":"crossref","first-page":"1754","DOI":"10.1093\/bioinformatics\/btp324","article-title":"Fast and accurate short read alignment with Burrows-Wheeler transform","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics"},{"issue":"W1","key":"10.1016\/j.cca.2021.03.019_b0080","doi-asserted-by":"crossref","first-page":"W296","DOI":"10.1093\/nar\/gky427","article-title":"SWISS-MODEL: homology modelling of protein structures and complexes","volume":"46","author":"Waterhouse","year":"2018","journal-title":"Nucleic Acids Res."},{"issue":"1","key":"10.1016\/j.cca.2021.03.019_b0085","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1186\/2047-217X-3-30","article-title":"Clinical outcome of preimplantation genetic diagnosis and screening using next generation sequencing","volume":"3","author":"Tan","year":"2014","journal-title":"GigaScience"},{"issue":"1","key":"10.1016\/j.cca.2021.03.019_b0090","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1093\/humrep\/deq231","article-title":"ESHRE PGD consortium best practice guidelines for amplification-based PGD","volume":"26","author":"Harton","year":"2011","journal-title":"Hum. Reprod. (Oxford, England)"},{"key":"10.1016\/j.cca.2021.03.019_b0095","doi-asserted-by":"crossref","unstructured":"The Istanbul consensus workshop on embryo assessment: proceedings of an expert meeting, Hum. Reprod. (Oxford, England) 26 (6) (2011) 1270\u20131283, doi: 10.1093\/humrep\/der037.","DOI":"10.1093\/humrep\/der037"},{"issue":"9","key":"10.1016\/j.cca.2021.03.019_b0100","doi-asserted-by":"crossref","first-page":"2581","DOI":"10.1093\/humrep\/det271","article-title":"Single-nucleotide polymorphism microarray-based preimplantation genetic diagnosis is likely to improve the clinical outcome for translocation carriers","volume":"28","author":"Tan","year":"2013","journal-title":"Hum. Reprod. (Oxford, England)"},{"issue":"9\u201310","key":"10.1016\/j.cca.2021.03.019_b0105","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1007\/s10528-014-9657-6","article-title":"Two frequent mutations associated with the classic form of propionic acidemia in Taiwan","volume":"52","author":"Chiu","year":"2014","journal-title":"Biochem. Genet."},{"issue":"4","key":"10.1016\/j.cca.2021.03.019_b0110","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1038\/nrg.2015.25","article-title":"Mechanisms underlying structural variant formation in genomic disorders","volume":"17","author":"Carvalho","year":"2016","journal-title":"Nat. Rev. Genet."},{"issue":"11","key":"10.1016\/j.cca.2021.03.019_b0115","doi-asserted-by":"crossref","DOI":"10.3390\/genes10110926","article-title":"CNV detection from circulating tumor DNA in late stage non-small cell lung cancer patients","volume":"10","author":"Peng","year":"2019","journal-title":"Genes"},{"key":"10.1016\/j.cca.2021.03.019_b0120","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1016\/j.cca.2019.12.021","article-title":"Combinations of exonic deletions and rare mutations lead to misdiagnosis of propionic acidemia","volume":"502","author":"Wang","year":"2020","journal-title":"Clin. Chim. Acta"},{"issue":"7","key":"10.1016\/j.cca.2021.03.019_b0125","doi-asserted-by":"crossref","first-page":"985","DOI":"10.1038\/ejhg.2015.232","article-title":"Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 3","volume":"24","author":"Liskova","year":"2016","journal-title":"Eur. J. Hum. Genet.: EJHG"},{"issue":"1\u20132","key":"10.1016\/j.cca.2021.03.019_b0130","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1016\/j.ymgme.2004.08.001","article-title":"Propionic acidemia: mutation update and functional and structural effects of the variant alleles","volume":"83","author":"Desviat","year":"2004","journal-title":"Mol. Genet. Metab."},{"issue":"2","key":"10.1016\/j.cca.2021.03.019_b0135","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1046\/j.1523-1747.2000.00880.x","article-title":"Epidermolysis bullosa: novel and de novo premature termination codon and deletion mutations in the plectin gene predict late-onset muscular dystrophy","volume":"114","author":"Rouan","year":"2000","journal-title":"J. Invest. Dermatol."},{"issue":"7280","key":"10.1016\/j.cca.2021.03.019_b0140","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1038\/nature08909","article-title":"Expansion of the eukaryotic proteome by alternative splicing","volume":"463","author":"Nilsen","year":"2010","journal-title":"Nature"}],"container-title":["Clinica Chimica Acta"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0009898121001042?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0009898121001042?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,14]],"date-time":"2025-09-14T14:58:08Z","timestamp":1757861888000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0009898121001042"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,8]]},"references-count":28,"alternative-id":["S0009898121001042"],"URL":"https:\/\/doi.org\/10.1016\/j.cca.2021.03.019","relation":{},"ISSN":["0009-8981"],"issn-type":[{"value":"0009-8981","type":"print"}],"subject":[],"published":{"date-parts":[[2021,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Novel variants of the PCCB gene in Chinese patients with propionic acidemia","name":"articletitle","label":"Article Title"},{"value":"Clinica Chimica Acta","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.cca.2021.03.019","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2021 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}