Skin damage in a patient with lipid storage myopathy with a novel ETFDH mutation responsive to riboflavin. [electronic resource]
Producer: 20210816Description: 1192-1198 p. digitalISSN:- 1563-5279
- Electron-Transferring Flavoproteins -- genetics
- Humans
- Lipid Metabolism, Inborn Errors -- diagnosis
- Multiple Acyl Coenzyme A Dehydrogenase Deficiency -- diagnosis
- Muscular Dystrophies -- diagnosis
- Mutation, Missense
- Riboflavin -- administration & dosage
- Skin -- pathology
- Vitamin B Complex -- administration & dosage
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Publication Type: Case Reports; Journal Article
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