Cause of recurrent rhabdomyolysis, carnitine palmitoyltransferase II deficiency and novel pathogenic mutation.

Çakar, Nafiye Emel; Gör, Zeynep; Yesil, Gözde

Çakar, Nafiye Emel; Gör, Zeynep; Yesil, Gözde.

Çakar NE; Department of Pediatric Metabolism, Okmeydani Training and Research Hospital Istanbul, Turkey.
Gör Z; Department of Pediatric Metabolism, Okmeydani Training and Research Hospital Istanbul, Turkey.
Yesil G; Department of Medical Genetics, Bezmialem Vakif University Istanbul, Turkey.

Ideggyogy Sz ; 74(3-4): 135-138, 2021 Mar 30.

Article en En | MEDLINE | ID: mdl-33938664

Asunto(s)

Errores Innatos del Metabolismo; Rabdomiólisis; Adolescente; Carnitina O-Palmitoiltransferasa/deficiencia; Carnitina O-Palmitoiltransferasa/genética; Humanos; Masculino; Errores Innatos del Metabolismo/complicaciones; Errores Innatos del Metabolismo/genética; Mutación; Rabdomiólisis/genética

Palabras clave

carnitine palmitoyltransferase II deficiency; myalgia; rhabdomyolysis

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Rabdomiólisis / Errores Innatos del Metabolismo Límite: Adolescent / Humans / Male Idioma: En Año: 2021 Tipo del documento: Article

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