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Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects

โœ Scribed by Jean-Paul Bonnefont; Fatima Djouadi; Carina Prip-Buus; Stephanie Gobin; Arnold Munnich; Jean Bastin


Book ID
116727856
Publisher
Elsevier Science
Year
2004
Tongue
English
Weight
269 KB
Volume
25
Category
Article
ISSN
0098-2997

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Biochemical and molecular correlations i
โœ Georgirene D. Vladutiu ๐Ÿ“‚ Article ๐Ÿ“… 1999 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 67 KB ๐Ÿ‘ 2 views

Carnitine palmitoyltransferase II (CPT II) deficiency is the most common lipid myopathy in adults and is characterized by exerciseinduced pain, stiffness, and myoglobinuria. Retrospective analysis of patients with CPT II deficiency has made it possible to correlate the presence of disease-causing mu