Maternal Primary Carnitine Deficiency and a Novel Solute Carrier Family 22 Member 5 (SLC22A5) Mutation
Primary carnitine deficiency (PCD) is a rare autosomal recessive disorder caused by loss of function mutations in the solute carrier family 22 member 5 ( SLC22A5 ) gene that encodes a high-affinity sodium-ion-dependent organic cation transporter protein (OCTN2). Reduced carnitine transport results i...
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| Main Authors: | , , , |
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| Format: | Book |
| Published: |
SAGE Publishing,
2021-05-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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Connect to this object online.3rd Floor Main Library
| Call Number: |
A1234.567 |
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| Copy 1 | Available |