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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| Format: | article |
| Langue: | EN |
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Frontiers Media S.A.
2021
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| Accès en ligne: | https://doaj.org/article/7e9a8c9eb4cd465694b4ffde276aaf06 |
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