Variable phenotypes and outcomes associated with the MMACHC c.482G > A mutation: follow-up in a large CblC disease cohort.

doi:10.1007/s12519-023-00770-2

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Article

Variable phenotypes and outcomes associated with the MMACHC c.482G > A mutation: follow-up in a large CblC disease cohort.

World journal of pediatrics : WJP - 1 Aug 2024

Wu Sheng-Nan, E Hui-Shu, Yu Yue, Ling Shi-Ying, Liang Li-Li, Qiu Wen-Juan, Zhang Hui-Wen, Shuai Rui-Xue, Wei Hai-Yan, Yang Chi-Ju, Xu Peng, Chen Xi-Gui, Zou Hui, Feng Ji-Zhen, Niu Ting-Ting, Hu Hai-Li, Zhang Kai-Chuang, Lu De-Yun, Gong Zhu-Wen, Zhan Xia, Ji Wen-Jun, Gu Xue-Fan, Chen Yong-Xing, Han Lian-Shu

Abstract excerpt

BACKGROUND: The aim of this study was to characterize the variable phenotypes and outcomes associated with the methylmalonic aciduria and homocystinuria type C protein gene (MMACHC) c.482G > A mutation in 195 Chinese cases with CblC disease. METHODS: We carried out a national, retrospective multicenter study of 195 Chinese patients with CblC disease attributable to the MMACHC c.482G > A variant either in a...

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PMID: 38070096
DOI: 10.1007/s12519-023-00770-2
PMCID: PMC11402842

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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