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

• Main Authors: Xiaoyu Liu (Author), Huijie Xiao (Author), Yong Yao (Author), Suxia Wang (Author), Hongwen Zhang (Author), Xuhui Zhong (Author), Yanling Yang (Author), Jie Ding (Author), Fang Wang (Author)
• Format: Book
• Published: Frontiers Media S.A., 2023-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...