Case report: Severe nonketotic hyperglycinemia in a neonate without apparent seizures but concomitant cleft palate and cerebral sinovenous thrombosis

• 主要な著者: Rapeepat Thewamit (著者), Chaiyos Khongkhatithum (著者), Lunliya Thampratankul (著者), Wuttichart Kamolvisit (著者), Arthaporn Khongkrapan (著者), Duangrurdee Wattanasirichaigoon (著者)
• フォーマット: 図書
• 出版事項: Frontiers Media S.A., 2023-08-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

Nonketotic hyperglycinemia (NKH) is in most cases a fatal inborn error of metabolism which usually presents during the neonatal period as encephalopathy and refractory seizures. The reported congenital anomalies associated with NKH included corpus callosal agenesis, club foot, cleft palate, and cong...