Long-chain L 3-hydroxyacyl-CoA dehydroge
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Otto, Lisa R.; Boriack, Richard L.; Marsh, Debbie J.; Kum, Jennifer B.; Eng, Cha
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Article
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1999
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John Wiley and Sons
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English
⚖ 12 KB
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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