In order to test the hypothesis that longchain L 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) deficiency is associated with the lipid myopathy and muscle carnitine deficiency observed in Bannayan-Riley-Ruvalcaba syndrome (BRRS), we studied the enzyme activity in cultured skin fibroblasts from thre
โฆ LIBER โฆ
Short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency in muscle: A new cause for recurrent myoglobinuria and encephalopathy
โ Scribed by Dr. I. Tein; D. C. De Vivo; D. E. Hale; J. T. R. Clarke; H. Zinman; R. Laxer; A. Shore; S. Dimauro
- Publisher
- John Wiley and Sons
- Year
- 1991
- Tongue
- English
- Weight
- 538 KB
- Volume
- 30
- Category
- Article
- ISSN
- 0364-5134
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