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

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)1589-1597
Number of pages9
JournalGenetics in Medicine
Volume22
Issue number10
DOIs
Publication statusPublished - Oct 2020

Keywords

  • anemia
  • epilepsy
  • developmental delay
  • early infantile epileptic encephalopathy-50
  • EIEE
  • MUTATIONS
  • ACIDURIA
  • BRAIN

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