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Combined malonic methylmalonic aciduria
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- 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 ...
- ... 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 ...
- Genetic Brain Disorders (National Library of Medicine)A genetic brain disorder is caused by a variation or a mutation in a gene. A variation is a different form of a gene. A mutation is a change in a gene. ...
- Lipid Metabolism Disorders (National Library of Medicine)Metabolism is the process your body uses to make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive ...