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 (Co-author), Christine Coubes, Hans Hartmann, Julie D Kaplan, Diana Ballhausen, Johannes Koch (Co-author), Jan Lotte, Mohammad Hasan Mohammadi, Marianne Rohrbach, Argirios Dinopoulos, Marieke Wermuth, Daniel Willis, Karin Brugger, Ron A Wevers, Eugen BoltshauserJörgen Bierau, Johannes A. Mayr (Co-author), Saskia Wortmann* (Last author)

*Corresponding author for this work

Research output: Contribution to journalOriginal Article (Journal)peer-review

17 Citations (Web of Science)
Original languageEnglish
Pages (from-to)1589-1597
JournalGENETICS IN MEDICINE
Volume22
Issue number10
DOIs
Publication statusPublished - 2020

Keywords

  • MUTATIONS
  • ACIDURIA
  • BRAIN

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