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Results 1 - 3 of 3 for Methylmalonic acidemia with homocystinuria cblC
Did you mean Methylmalonic acidemia with homocystinuria cbld?
  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. Methylmalonic acidemia with homocystinuria 
    ... falls. The most common form of the condition, methylmalonic acidemia with homocystinuria, cblC type, is estimated to affect 1 in 200, ... Registry: Methylmalonic aciduria and homocystinuria type cblF ... METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE; MAHCC METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE; ...
    https://medlineplus.gov/...ethylmalonic-acidemia-with-homocystinuria - Genetics
  3. 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