ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. [electronic resource]
Producer: 20070906Description: 2045-54 p. digitalISSN:- 1460-2156
- Acyl-CoA Dehydrogenase -- deficiency
- Adolescent
- Adult
- Brain Diseases, Metabolic -- enzymology
- Carnitine -- analogs & derivatives
- Child
- Child, Preschool
- Electron Transport -- physiology
- Electron-Transferring Flavoproteins -- genetics
- Fatty Acids -- metabolism
- Female
- Humans
- Iron-Sulfur Proteins -- genetics
- Male
- Metabolism, Inborn Errors -- genetics
- Mitochondria, Muscle -- metabolism
- Mitochondrial Myopathies -- drug therapy
- Muscle, Skeletal -- metabolism
- Mutation
- Oxidation-Reduction
- Oxidoreductases Acting on CH-NH Group Donors -- genetics
- Riboflavin -- therapeutic use
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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