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Article

Clinical and genotypic analysis of 79 children with methylmalonic acidemia: a retrospective single-center study in China.

Frontiers in endocrinology - 1 Jan 2026

Yu Huimin, Xie Xiangbo, Chen Chen, Chen Donglei, Sun Yan, Li Guimei, Shang Xiaohong, Yang Jianmei

Abstract excerpt

Objective: Methylmalonic acidemia (MMA) is a common hereditary disorder affecting infants and children. This study investigated the onset age, phenotypes, genotypes, and biochemical features of MMA in 79 children from a single center in Shandong Province, providing data to aid early diagnosis and management. Methods: The data were obtained from 79 children who were diagnosed with MMA through genetic analysis from...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42375327
DOI: 10.3389/fendo.2026.1806231
PMCID: PMC13310777

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