Carnitine palmitoyltransferase-II deficiency: case presentation and review of the literature

• Главные авторы: Mccormick Benjamin J. (Автор), Chirila Razvan M. (Автор)
• Формат: ‌
• Опубликовано: Sciendo, 2021-12-01T00:00:00Z.
• Предметы: article
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Carnitine palmitoyltransferase-II deficiency, an autosomal recessive disorder, is the most common cause of recurrent rhabdomyolysis in adults. Recognition and avoidance of triggers, such as heavy exercise and stress, is key in prevention of further episodes; however, even with preventative measures,...