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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Bibliografiske detaljer
Udgivet i:Pediatr Rep
Main Authors: Alghamdi, Abdulrahman, Almalki, Hani, Shawli, Aiman, Waggass, Rahaf, Hakami, Fahad
Format: Artigo
Sprog:Inglês
Udgivet: PAGEPress Scientific Publications, Pavia, Italy 2018
Fag:
Case Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6050471/
https://ncbi.nlm.nih.gov/pubmed/30069296
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4081/pr.2018.7705
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