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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| Main Authors: | , , , , , , , , |
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| Format: | Book |
| Published: |
Frontiers Media S.A.,
2023-01-01T00:00:00Z.
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