Article
Analysis of the relationship between phenotypes and genotypes in 60 Chinese patients with propionic acidemia: a fourteen-year experience at a tertiary hospital.
Orphanet journal of rare diseases - 24 Mar 2022
Liu Yi, Chen Zhehui, Dong Hui, Ding Yuan, He Ruxuan, Kang Lulu, Li Dongxiao, Shen Ming, Jin Ying, Zhang Yao, Song Jinqing, Tian Yaping, Cao Yongtong, Liang Desheng, Yang Yanling
Abstract excerpt
BACKGROUND: Propionic acidemia is a severe inherited metabolic disorder, caused by the deficiency of propionyl-CoA carboxylase which encoded by the PCCA and PCCB genes. The aim of the study was to investigate the clinical features and outcomes, molecular epidemiology and phenotype-genotype relationship in Chinese population. METHODS: We conducted a retrospective study of 60 Chinese patients diagnosed at Peking...
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