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

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

Abstract 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 a...

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Bibliographic Details
Main Authors: Zhehui Chen, Hui Dong, Yupeng Liu, Ruxuan He, Jinqing Song, Ying Jin, Mengqiu Li, Yi Liu, Xueqin Liu, Hui Yan, Jianguang Qi, Fang Wang, Huijie Xiao, Hong Zheng, Lulu Kang, Dongxiao Li, Yao Zhang, Yanling Yang
Format: Article
Language:English
Published: BMC 2022-09-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Methylmalonic aciduria
cblC
Adolescence
Puberty
Neuropsychiatric symptoms
Multiple organ damage
Online Access:https://doi.org/10.1186/s13023-022-02471-x

Internet

https://doi.org/10.1186/s13023-022-02471-x

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