Research & Innovation
Publications

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

#2020

#GENETICS IN MEDICINE

PMU Authors
Cornelia Betzler, Johannes Koch, Johannes A. Mayr, Saskia Wortmann

All Authors
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

Journal association
GENETICS IN MEDICINE

Abstract

Keywords

BRAIN, MUTATIONS, ACIDURIA

Latest Publication

#2025

#Abstract

Valentin Fischill-Neudeck, Antje van der Zee-Neuen, Margitta B. Beil-Hildebrand Strengthening Professional Health Literacy: A Theory-Based Approach to Empower Nursing Practice

#2025

#Original Article

Margaux Delporte, Johan Verbeeck, Isabella Brambilla, Georg Zimmermann, Geert Molenberghs, Rima Nabbout, Dravet syndrome, REGISTRY; RARE DISEASES; DRAVET SYNDROME; Natural history;

#2025

#Editorial

Eunkyeong Oh, Alberto Lucchini, Peter Nydahl Personalized approaches to ICU Distress

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Paracelsus Medical University (PMU) Research & Innovation Publications

Expanding the clinical and genetic spectrum of CAD...