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"3-methylcrotonyl-CoA" carboxylase 1 deficiency
- ... deficiency. The condition is sometimes referred to as 3-methylcrotonyl-CoA carboxylase 1 deficiency or 3-methylcrotonyl-CoA carboxylase 2 deficiency depending ...
- ... and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency. Hum Mol Genet. 2001 Jun 1;10(12):1299-306. doi: 10.1093/hmg/ ...
- ... and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency. Hum Mol Genet. 2001 Jun 1;10(12):1299-306. doi: 10.1093/hmg/ ...
- Amino Acid 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. Your digestive system breaks ...
- Newborn Screening Tests for Your Baby (March of Dimes Foundation)Newborn Screening/Specifics ... Newborn Screening ... March of Dimes Foundation ... All babies in the U.S. receive newborn screening tests before leaving the hospital ...
- 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. ...
- ... synthetase-1, pyruvate carboxylase, propionyl-CoA carboxylase, and 3-methylcrotonyl-CoA carboxylase. These enzymes help control the amount of certain other substances in the body. Carbomoyl phosphate synthetase-1 is involved in the urea cycle, which processes ...