Variable Phenotypes and Outcomes Associated with the MMACHC C.609g>a Homologous Mutation: Long Term Follow-Up in a Large Cohort of Cases
Orphanet Journal of Rare Diseases（2020）
关键词
Cobalamin C deficiency (cblC),The MMACHC gene,C.609G > A,Methylmalonic acidemia and homocysteinemia
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