From recurrent rhabdomyolysis in a young adult to carnitine palmitoyltransferase II deficiency

Metabolic myopathies are a diverse group of rare genetic disorders associated with recurrent episodes of rhabdomyolysis, induced by triggers such as fever or exercise. In these disorders, the energetic metabolism is compromised resulting in damage of the muscle cells. The diagnosis can be challengin...

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Detalles Bibliográficos
Autores principales: Marques, Cristina, Silva, Catarina, Silva, Carina, Abreu, João Pedro, Ribeiro, Márcia, Guimas, Arlindo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: UMF “Gr. T. Popa” Iasi Publishing House 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10088049/
https://www.ncbi.nlm.nih.gov/pubmed/37056952
http://dx.doi.org/10.22551/2023.38.1001.10238

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10088049/
https://www.ncbi.nlm.nih.gov/pubmed/37056952
http://dx.doi.org/10.22551/2023.38.1001.10238

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