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Clinical and neurophysiologic response of myopathy and neuropathy in long-chain l-3-hydroxyacyl-CoA dehydrogenase deficiency to oral prednisone

✍ Scribed by Ingrid Tein; Elizabeth J. Donner; Daniel E. Hale; E. Gordon Murphy


Book ID
116153705
Publisher
Elsevier Science
Year
1995
Tongue
English
Weight
964 KB
Volume
12
Category
Article
ISSN
0887-8994

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Long-chain L 3-hydroxyacyl-CoA dehydroge
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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