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Prominent renal complications associated with MMACHC pathogenic variant c.80A > G in Chinese children with cobalamin C deficiency
OBJECTIVE: CblC deficiency, the most common cobalamin metabolic abnormality, is caused by pathogenic variants in the MMACHC gene. The renal complications of this disease have been described only in a small number of cases. This study aimed to better delineate renal phenotype and genetic characterist...
Autores principales: | Liu, Xiaoyu, Xiao, Huijie, Yao, Yong, Wang, Suxia, Zhang, Hongwen, Zhong, Xuhui, Yang, Yanling, Ding, Jie, Wang, Fang |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9871484/ https://www.ncbi.nlm.nih.gov/pubmed/36704130 http://dx.doi.org/10.3389/fped.2022.1057594 |
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