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Results 1 - 2 of 2 for Methylmalonic acidemia with homocystinuria cblC
  1. MMACHC gene 
    ... known as mutations) have been found to cause methylmalonic acidemia with homocystinuria, cblC type, the most common form of a disorder ... imbalances leads to the signs and symptoms of methylmalonic acidemia with homocystinuria. More About ... cblC DKFZP564I122 methylmalonic aciduria (cobalamin deficiency) cblC type, with ...
    https://medlineplus.gov/genetics/gene/mmachc - Genetics
  2. PRDX1 gene 
    ... mutations) in the PRDX1 gene are involved in methylmalonic acidemia with homocystinuria, epi-cblC type (shortened to epi-cblC), which is one ... molecules leads to the signs and symptoms of methylmalonic acidemia with ... development of epi-cblC. In addition, the effect of PRDX1 gene variants ...
    https://medlineplus.gov/genetics/gene/prdx1 - Genetics