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Analysis of the relationship between phenotypes and genotypes in 60 Chinese patients with propionic acidemia: a fourteen-year experience at a tertiary hospital

Abstract 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 r...

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Principais autores: Yi Liu, Zhehui Chen, Hui Dong, Yuan Ding, Ruxuan He, Lulu Kang, Dongxiao Li, Ming Shen, Ying Jin, Yao Zhang, Jinqing Song, Yaping Tian, Yongtong Cao, Desheng Liang, Yanling Yang
Formato: Artigo
Idioma:Inglês
Publicado em: BMC 2022-03-01
coleção:Orphanet Journal of Rare Diseases
Assuntos:
Propionic acidemia
PCCA gene
PCCB gene
Propionyl-CoA carboxylase
Acesso em linha:https://doi.org/10.1186/s13023-022-02271-3
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