Forschung & Innovation
Publikationen
Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation.
PMU Autor*innen
Cornelia Betzler, Johannes Koch, Johannes A. Mayr, Saskia Wortmann
Alle Autor*innen
Daisy Rymen, Martijn Lindhout, Maria Spanou, Farah Ashrafzadeh, Ira Benkel, Cornelia Betzler, Christine Coubes, Hans Hartmann, Julie D Kaplan, Diana Ballhausen, Johannes Koch, Jan Lotte, Mohammad Hasan Mohammadi, Marianne Rohrbach, Argirios Dinopoulos, Marieke Wermuth, Daniel Willis, Karin Brugger, Ron A Wevers, Eugen Boltshauser, Jörgen Bierau, Johannes A. Mayr, Saskia Wortmann
Fachzeitschrift
GENETICS IN MEDICINE
Kurzfassung
Keywords
BRAIN, MUTATIONS, ACIDURIA