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Article

[Analysis of clinical characteristics of children with combined malonic and methylmalonic aciduria].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Jun 2026

Ding Y, Deng Y X, Hao L L, Zhi H J, Chen T, Zhan X, Han L S

Abstract excerpt

Objective: To investigate the clinical characteristics, genetic variants and outcomes of children with combined malonic and methylmalonic aciduria (CMAMMA) caused by ACSF3 gene variant. Methods: This was a retrospective case series. Clinical manifestations, biochemical findings, genetic sequencing and outcomes were collected from 7 infants with CMAMMA who were evaluated at the Department of Pediatric...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 42135235
DOI: 10.3760/cma.j.cn112140-20260204-00114

Genes

ACSF3
C3
C2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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