Primary carnitine deficiency in a 57-year-old patient with recurrent exertional rhabdomyolysis

Rhabdomyolysis is an emergency requiring rapid diagnosis and suitable aetiological treatment. We describe the case of a 57-year-old man with recurrent exertional rhabdomyolysis who was diagnosed with systemic primary carnitine deficiency (SPCD). Clinical examination was normal, creatine kinase level...

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Publicado en:BMJ Case Rep
Autores principales: Echaniz-Laguna, Andoni, Biancalana, Valérie, Gaignard, Pauline, Chanson, Jean-Baptiste
Formato: Artigo
Lenguaje:Inglês
Publicado: BMJ Publishing Group 2018
Materias:
Rare Disease
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6011464/
https://ncbi.nlm.nih.gov/pubmed/29895548
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2018-224272
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