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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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Prif Awduron:	Abdulrahman Alghamdi (Awdur), Hani Almalki (Awdur), Aiman Shawli (Awdur), Rahaf Waggass (Awdur), Fahad Hakami (Awdur)
Fformat:	Llyfr
Cyhoeddwyd:	MDPI AG, 2018-06-01T00:00:00Z.
Pynciau:	article
Mynediad Ar-lein:	Connect to this object online.
Tagiau:	Ychwanegu Tag Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!

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