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Article

Clinical and Molecular Genetic Analysis with Methylmalonic Acidemia Combined with Homocystinuria.

Clinical laboratory - 1 Feb 2024

Gan Xinhui, Guo Yanhua, Shen Jie, Zhao Yan, Zhang Fangfang, Yu Chunmei

Abstract excerpt

BACKGROUND: Based on research, c.609G>A (p.W203X) is a universal mutation site for MMACHC in methylmalonic acidemia (MMA) combined with homocystinuria, cblC type (cblC disease), and c.467G>A (p.G156D) mutation in families with such disease have not yet been reported. To conduct clinical and molecular genetic analysis of a family with cblC disease. METHODS: This work followed the Declaration of Helsinki. All...

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Identifiers

PMID: 38345966
DOI: 10.7754/Clin.Lab.2022.220126

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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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