Late-onset cblC deficiency around puberty: a retrospective study of the clinical characteristics, diagnosis, and treatment

BACKGROUND: cblC deficiency is the most common type of methylmalonic aciduria in China. Late-onset patients present with various non-specific symptoms and are usually misdiagnosed. The purpose of this study is to investigate the clinical features of patients with late-onset cblC deficiency and explo...

Descripción completa

Detalles Bibliográficos
Autores principales: Chen, Zhehui, Dong, Hui, Liu, Yupeng, He, Ruxuan, Song, Jinqing, Jin, Ying, Li, Mengqiu, Liu, Yi, Liu, Xueqin, Yan, Hui, Qi, Jianguang, Wang, Fang, Xiao, Huijie, Zheng, Hong, Kang, Lulu, Li, Dongxiao, Zhang, Yao, 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/PMC9438293/
https://www.ncbi.nlm.nih.gov/pubmed/36056359
http://dx.doi.org/10.1186/s13023-022-02471-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9438293/
https://www.ncbi.nlm.nih.gov/pubmed/36056359
http://dx.doi.org/10.1186/s13023-022-02471-x

Ejemplares similares