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

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 BoltshauserJorgen Bierau, Johannes A. Mayr, Saskia B. Wortmann*

*Corresponding author for this work

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Medicine and Dentistry

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Biochemistry, Genetics and Molecular Biology