Prominent renal complications associated with MMACHC pathogenic variant c.80A > G in Chinese children with cobalamin C deficiency

ObjectiveCblC 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 characteristic...

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Autors principals:	Xiaoyu Liu, Huijie Xiao, Yong Yao, Suxia Wang, Hongwen Zhang, Xuhui Zhong, Yanling Yang, Jie Ding, Fang Wang
Format:	Artigo
Idioma:	Inglês
Publicat:	Frontiers Media S.A. 2023-01-01
Col·lecció:	Frontiers in Pediatrics
Matèries:	cblC MMACHC gene variant c.80A>G renal complications thrombotic microangiopathy (TMA)
Accés en línia:	https://www.frontiersin.org/articles/10.3389/fped.2022.1057594/full
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