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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Format: | Book |
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MDPI AG,
2018-06-01T00:00:00Z.
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A1234.567 |
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