Paracelsus Medizinische Privatuniversität (PMU)

Forschung & Innovation
Publikationen

Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation.

#2020
#GENETICS IN MEDICINE

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