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Article

Clinical and electroencephalogram characteristics of methylmalonic acidemia with MMACHC and MUT gene mutations.

BMC pediatrics - 14 Feb 2024

Yuan Yujun, Ma Ying, Wu Qiong, Huo Liang, Liu Chun-Feng, Liu Xueyan

Abstract excerpt

OBJECTIVE: This study investigated the clinical, imaging, and electroencephalogram (EEG) characteristics of methylmalonic acidemia (MMA) with nervous system damage as the primary manifestation. METHODS: From January 2017 to November 2022, patients with nervous system injury as the main clinical manifestation, diagnosed with methylmalonic acidemia by metabolic and genetic testing, were enrolled and analyzed. Their...

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Identifiers

PMID: 38355526
DOI: 10.1186/s12887-024-04559-8
PMCID: PMC10865547

Genes

MMACHC

Provenance

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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