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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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Autori principali:	Abdulrahman Alghamdi (Autore), Hani Almalki (Autore), Aiman Shawli (Autore), Rahaf Waggass (Autore), Fahad Hakami (Autore)
Natura:	Libro
Pubblicazione:	MDPI AG, 2018-06-01T00:00:00Z.
Soggetti:	article
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