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Striking improvement of muscle strength under creatine therapy in a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

โœ Scribed by G. C. Korenke; R. J. A. Wanders; F. Hanefeld


Book ID
111538587
Publisher
Springer
Year
2003
Tongue
English
Weight
41 KB
Volume
26
Category
Article
ISSN
0141-8955

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Long-chain L 3-hydroxyacyl-CoA dehydroge
โœ Otto, Lisa R.; Boriack, Richard L.; Marsh, Debbie J.; Kum, Jennifer B.; Eng, Cha ๐Ÿ“‚ Article ๐Ÿ“… 1999 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 12 KB ๐Ÿ‘ 1 views

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