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Article

Combined methylmalonic aciduria and homocystinuria cblC type of a Taiwanese infant with c.609G>A and C.567dupT mutations in the MMACHC gene.

Pediatrics and neonatology - 1 Aug 2011

Chang Jenn-Tzong, Chen Ying-Yao, Liu Tze-Tze, Liu Mei-Ying, Chiu Pao-Chin

Abstract excerpt

Combined methylmalonic aciduria and homocystinuria, cobalamin (cbl)C type (cblC disease), the most common inborn error of vitamin B(12), is a rare disorder of intracellular cbl metabolism because of mutations in the MMACHC gene located in chromosome region 1p34.1. It has become possible to establish phenotype-genotype correlations and to observe ethnicity-related trends. This article provides detailed clinical...

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Source

Identifiers

PMID: 21835369
DOI: 10.1016/j.pedneo.2011.05.006

Genes

MMACHC

Variants

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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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