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...

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Detalles Bibliográficos
Autores principales: Liu, Xiaoyu, Xiao, Huijie, Yao, Yong, Wang, Suxia, Zhang, Hongwen, Zhong, Xuhui, Yang, Yanling, Ding, Jie, Wang, Fang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Pediatrics
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

Internet

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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