Three Novel and One Potential Hotspot CPT1A Variants in Chinese Patients With Carnitine Palmitoyltransferase 1A Deficiency

• 主要な著者: Weifeng Zhang (著者), Yanru Chen (著者), Chunmei Lin (著者), Weilin Peng (著者), Qingliu Fu (著者), Yiming Lin (著者)
• フォーマット: 図書
• 出版事項: Frontiers Media S.A., 2021-11-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

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....