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[Analysis of the MUT gene mutations in patients with methylmalonic acidemia].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Oct 2009

Wang Fei, Han Lianshu, Ye Jun, Qiu Wenjuan, Zhang Yafen, Gao Xiaolan, Wang Yu, Yang Yanling, Gu Xuefan

Abstract excerpt

OBJECTIVE: To investigate the MUT gene mutations in patients with methylmalonic acidemia (MMA), and analyze the genotype-phenotype correlation in patients with methylmalonyl-CoA mutase deficiency. METHODS: The diagnosis of the disease mainly depends on the measurement of C3 (acylcarnitine), C3/C0 (free carnitine) and C3/C2 (acetylcarnitine) in the blood by tandem mass spectrometry, the detection of methylmalonic...

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Identifiers

PMID: 19806564
DOI: 10.3760/cma.j.issn.1003-9406.2009.05.001

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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