Molecular and phenotypic characteristics of seven novel mutations causing branched-chain organic acidurias. [electronic resource]
Producer: 20170630Description: 252-7 p. digitalISSN:- 1399-0004
- 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide) -- chemistry
- Amino Acid Metabolism, Inborn Errors -- genetics
- Amino Acids, Branched-Chain -- genetics
- Female
- Genotype
- Humans
- Infant
- Infant, Newborn
- Male
- Maple Syrup Urine Disease -- genetics
- Methylmalonyl-CoA Decarboxylase -- chemistry
- Mitochondrial Membrane Transport Proteins -- chemistry
- Mutation
- Phenotype
- Propionic Acidemia -- genetics
- Protein Conformation
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Publication Type: Journal Article
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