Congenital disorders of glycosylation type IIb with MOGS mutations cause early infantile epileptic encephalopathy, dysmorphic features, and hepatic dysfunction

Autor: Anzai, Rie, Tsuji, Megumi, Yamashita, Sumimasa, Wada, Yoshinao, Okamoto, Nobuhiko, Saitsu, Hirotomo, Matsumoto, Naomichi, Goto, Tomohide
Zdroj: In Brain and Development March 2021 43(3):402-410
Databáze: ScienceDirect