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[Phenotypes and genotypes of 78 patients with propionic acidemia].

Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine] - 6 Sept 2022

Ma X, Liu Y, Chen Z H, Zhang Y, Dong H, Song J Q, Jin Y, Li M Q, Kang L L, He R X, Ding Y, Li D X, Zheng H, Sun L Y, Zhu Z J, Yang Y L, Cao Yongtong

Abstract excerpt

Objective: Propionic acidemia is a rare inherited metabolic disorder caused by propionyl CoA carboxylase (PCC) deficiency. This study aims to analyze the clinical characteristics and gene variations of Chinese patients with propionic acidemia, and to explore the correlation between clinical phenotypes and genotypes. Methods: Single-center, retrospective and observational study. Seventy-eight patients of propionic...

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PMID: 36207890
DOI: 10.3760/cma.j.cn112150-20220620-00630

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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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