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

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 relations...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8944130/
https://www.ncbi.nlm.nih.gov/pubmed/35331292
http://dx.doi.org/10.1186/s13023-022-02271-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8944130/
https://www.ncbi.nlm.nih.gov/pubmed/35331292
http://dx.doi.org/10.1186/s13023-022-02271-3

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