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Article

Clinical features and MUT gene mutation spectrum in Chinese patients with isolated methylmalonic acidemia: identification of ten novel allelic variants.

World journal of pediatrics : WJP - 1 Nov 2015

Han Lian-Shu, Huang Zhuo, Han Feng, Ye Jun, Qiu Wen-Juan, Zhang Hui-Wen, Wang Yu, Gong Zhu-Wen, Gu Xue-Fan

Abstract excerpt

BACKGROUND: This study aims to study MUT gene mutation spectrum in Chinese patients with isolated methylmalonic academia (MMA) and their clinical features for the potential genotype-phenotype correlation. METHODS: Forty-three patients were diagnosed with isolated MMA by elevated blood propionylcarnitine, propionylcarnitine to acetylcarnitine ratio, and urine methylmalonate without hyperhomocysteinemia. The MUT...

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PMID: 26454439
DOI: 10.1007/s12519-015-0043-1

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

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