Biochemical, Molecular, and Clinical Characterization of Patients With Primary Carnitine Deficiency via Large-Scale Newborn Screening in Xuzhou Area

• 主要な著者: Wei Zhou (著者), Huizhong Li (著者), Ting Huang (著者), Yan Zhang (著者), Chuanxia Wang (著者), Maosheng Gu (著者)
• フォーマット: 図書
• 出版事項: Frontiers Media S.A., 2019-02-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

Background: Primary carnitine deficiency (PCD) is attributed to a variation in the SLC22A5 (OCTN2) gene which encodes the key protein of the carnitine cycle, the OCTN2 carnitine transporter. PCD is typically identified in childhood by either hypoketotic hypoglycemia, or skeletal and cardiac myopathy...