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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...
Autores principales: | Vavlukis, M., Eftimov, A., Zafirovska, P., Caparovska, E., Pocesta, B., Kedev, S., Dimovski, A. J. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi Publishing Corporation
2014
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Materias: | |
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 |
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