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Results 1 - 4 of 4 for cblc
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  1. MMACHC gene 
    ... been found to cause methylmalonic acidemia with homocystinuria, cblC type, the most common form of a disorder ... acidemia with homocystinuria. More About This Health Condition cblC DKFZP564I122 methylmalonic aciduria (cobalamin deficiency) cblC type, with ...
    https://medlineplus.gov/genetics/gene/mmachc - Genetics
  2. PRDX1 gene 
    ... are involved in methylmalonic acidemia with homocystinuria, epi-cblC type (shortened to epi-cblC), which is one form of a disorder that ... abnormalities. Variants in the PRDX1 gene cause epi-cblC by leading to a genetic change called promoter ...
    https://medlineplus.gov/genetics/gene/prdx1 - Genetics
  3. Methylmalonic acidemia with homocystinuria 
    ... The most common and best understood form, called cblC type (or cobalamin C disease), occurs in about ... form of the condition, methylmalonic acidemia with homocystinuria, cblC type, is estimated to affect 1 in 200, ...
    https://medlineplus.gov/...ethylmalonic-acidemia-with-homocystinuria - Genetics
  4. Homocystinuria 
    ... Manganaro M, Porta F, Spada M. Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical ...
    https://medlineplus.gov/genetics/condition/homocystinuria - Genetics