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Article

[Analysis of clinical features and gene mutations in two Chinese pedigrees with late-onset methylmalonic acidemia, cblC type].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Jun 2010

Cui Dong, Chen Shu-li, Wen Peng-qiang, Hu Yu-hui, Chen Xiao-wen, Shen Dan, Yuan Quan, Song Ping, Liao Jian-xiang, Li Cheng-rong

Abstract excerpt

OBJECTIVE: CblC is the most common type of methylmalonic acidemia with homocysteinemia. MMACHC is the coding gene. This study aimed at understanding clinical features and gene mutations in 2 Chinese pedigrees who had late-onset methylmalonic acidemia complicated with homocysteinemia. METHOD: The clinical data of 2 cases were analyzed. The MMACHC gene mutation was detected using polymerase chain reaction (PCR) and...

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Identifiers

PMID: 21055272

Genes

MMACHC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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