Rhabdomyolysis and Cardiomyopathy in a 20-Year-Old Patient with CPT II Deficiency

Aim. To raise the awareness of adult-onset carnitite palmitoyltransferase II deficiency (CPT II) by describing clinical, biochemical, and genetic features of the disease occurring in early adulthood. Method. Review of the case characteristics and literature review. Results. We report on a 20-year-ol...

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Detalles Bibliográficos
Autores principales: Vavlukis, M., Eftimov, A., Zafirovska, P., Caparovska, E., Pocesta, B., Kedev, S., Dimovski, A. J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3915840/
https://www.ncbi.nlm.nih.gov/pubmed/24563797
http://dx.doi.org/10.1155/2014/496410

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3915840/
https://www.ncbi.nlm.nih.gov/pubmed/24563797
http://dx.doi.org/10.1155/2014/496410

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