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Recurrent metabolic decompensation in profound carnitine palmitoyltransferase II deficiency

✍ Scribed by Orly N. Elpeleg; Adina Joseph; David Branski; Ernst Christensen; Elisabeth Holme; France Demaugre; Jean-Marie Saudubray; Alisa Gutman


Book ID
117164305
Publisher
Elsevier Science
Year
1993
Tongue
English
Weight
296 KB
Volume
122
Category
Article
ISSN
1097-6833

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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