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Genes· 2026Q2

Propionic Acidemia: An Ambispective Cohort Study on Phenotypic and Genotypic Characteristics at a Tertiary Center in Vietnam

Diệp Minh Quang, Dzung Vu, Khanh Ngoc Nguyen, L. Nguyen et al.

Short summary

A study of 14 Vietnamese children with propionic acidemia (PA) found severe clinical outcomes, with 79% showing neurodevelopmental impairment and a 43% mortality rate, alongside common symptoms like acute encephalopathy and hyperammonemia.

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Clinical BiochemistryBiochemistry, Genetics and Molecular Biology