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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2022
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Materias: | |
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 |
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