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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Main Authors: Abdulrahman Alghamdi (Author), Hani Almalki (Author), Aiman Shawli (Author), Rahaf Waggass (Author), Fahad Hakami (Author)
Format: Book
Published: MDPI AG, 2018-06-01T00:00:00Z.
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3rd Floor Main Library

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Call Number: A1234.567
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