Three Novel and One Potential Hotspot CPT1A Variants in Chinese Patients With Carnitine Palmitoyltransferase 1A Deficiency
Carnitine palmitoyltransferase 1A (CPT1A) deficiency is an inherited disorder of mitochondrial fatty acid β-oxidation that impairs fasting ketogenesis and gluconeogenesis in the liver. Few studies implementing newborn screening (NBS) for CPT1A deficiency in the Chinese population have been reported....
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| Main Authors: | , , , , , |
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| Format: | Book |
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Frontiers Media S.A.,
2021-11-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |