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Results 1 - 2 of 2 for Combined malonic methylmalonic aciduria
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  1. Combined malonic and methylmalonic aciduria 
    Combined malonic and methylmalonic aciduria (CMAMMA) is a condition characterized by high levels of certain chemicals, known as malonic acid and ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov COMBINED MALONIC AND METHYLMALONIC ACIDURIA; CMAMMA PubMed Alfares A, Nunez LD, Al-Thihli ...
    https://medlineplus.gov/...mbined-malonic-and-methylmalonic-aciduria - Genetics
  2. ACSF3 gene 
    ... ACSF3 gene have been found in people with combined malonic and methylmalonic aciduria (CMAMMA), a condition characterized by elevated levels of ... Ha KC, Majewski J, Rosenblatt DS, Braverman N. Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene ...
    https://medlineplus.gov/genetics/gene/acsf3 - Genetics