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Primary carnitine deficiency in two sisters with intractable epilepsy and reversible metabolic cardiomyopathy: Two case reports

Primary carnitine deficiency (PCD) is a disorder of the carnitine cycle that results in defective fatty acid oxidation. When carnitine cannot be transported into the cells, fatty acid oxidation is impaired, resulting a variety of symptoms, such as chronic muscle weakness, cardiomyopathy, hypoglycemi...

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Detalhes bibliográficos
Publicado no:Exp Ther Med
Main Authors: Yang, Xiu-Fang, Liu, Guo-Sheng, Yi, Bing
Formato: Artigo
Idioma:Inglês
Publicado em: D.A. Spandidos 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7523286/
https://ncbi.nlm.nih.gov/pubmed/33005244
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/etm.2020.9246
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