A case of atypical systemic primary carnitine deficiency in Saudi Arabia

Systemic primary carnitine deficiency (SPCD) is an autosomal recessive inborn error of fatty acid metabolism caused by a defect in the transporter responsible for moving carnitine across plasma membrane. The clinical features of SPCD vary widely based on the age of onset and organs involved. During...

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Detalles Bibliográficos
Autores principales: Alghamdi, Abdulrahman, Almalki, Hani, Shawli, Aiman, Waggass, Rahaf, Hakami, Fahad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: PAGEPress Scientific Publications, Pavia, Italy 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6050471/
https://www.ncbi.nlm.nih.gov/pubmed/30069296
http://dx.doi.org/10.4081/pr.2018.7705

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