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Primary Carnitine Deficiency: A Rare, Reversible Metabolic Cardiomyopathy

A 24-year-old female with a diagnosis of primary carnitine deficiency, a rare inherited metabolic disorder predominantly described in the paediatric literature that causes cardiomyopathy, presented for evaluation after three months of nonadherence with prescribed carnitine therapy. Initial echocardi...

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Detalles Bibliográficos
Autores principales: Tomlinson, Stephen, Atherton, John, Prasad, Sandhir
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6158928/
https://www.ncbi.nlm.nih.gov/pubmed/30302293
http://dx.doi.org/10.1155/2018/3232105