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CblC Type Methylmalonic Aciduria with a Novel Homozygous Mutation: A Case Report
CblC Type Methylmalonic Aciduria with a Novel Homozygous Mutation: A Case Report

Sunil Joghee; Kumar Pradeep; Suja Mariam Ganapathy; Siddartha Buddhavarappu

Volume 6, Issue 9 , September 2018, , Pages 8275-8280

https://doi.org/10.22038/ijp.2018.31956.2845

Abstract
  Background CombinedMethylmalonic Aciduria (MMA), and homocystinuria CblC type is the most common inborn error of cobalamin metabolism with 77 mutations identified till date in the MMACHC ...  Read More