학술논문
Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation
Document Type
Article
Author
Rymen, Daisy; Lindhout, Martijn; Spanou, Maria; Ashrafzadeh, Farah; Benkel, Ira; Betzler, Cornelia; Coubes, Christine; Hartmann, Hans; Kaplan, Julie D.; Ballhausen, Diana; Koch, Johannes; Lotte, Jan; Mohammadi, Mohammad Hasan; Rohrbach, Marianne; Dinopoulos, Argirios; Wermuth, Marieke; Willis, Daniel; Brugger, Karin; Wevers, Ron A.; Boltshauser, Eugen; Bierau, Jörgen; Mayr, Johannes A.; Wortmann, Saskia B.
Source
In Genetics in Medicine October 2020 22(10):1589-1597
Subject
Language
ISSN
1098-3600