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Clinical features and new molecular findings in Carnitine Palmitoyltransferase II (CPT II) deficiency

โœ Scribed by S. Corti; A. Bordoni; D. Ronchi; O. Musumeci; M. Aguennouz; A. Toscano; C. Lamperti; N. Bresolin; G.P. Comi


Book ID
119302519
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
509 KB
Volume
266
Category
Article
ISSN
0022-510X

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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