• Media type: E-Article
  • Title: Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy
  • Contributor: van Karnebeek, Clara D.M.; Ramos, Rúben J.; Wen, Xiao-Yan; Tarailo-Graovac, Maja; Gleeson, Joseph G.; Skrypnyk, Cristina; Brand-Arzamendi, Koroboshka; Karbassi, Farhad; Issa, Mahmoud Y.; van der Lee, Robin; Drögemöller, Britt I.; Koster, Janet; Rousseau, Justine; Campeau, Philippe M.; Wang, Youdong; Cao, Feng; Li, Meng; Ruiter, Jos; Ciapaite, Jolita; Kluijtmans, Leo A.J.; Willemsen, Michel A.A.P.; Jans, Judith J.; Ross, Colin J.; Wintjes, Liesbeth T.; [...]
  • imprint: Elsevier BV, 2019
  • Published in: The American Journal of Human Genetics
  • Language: English
  • DOI: 10.1016/j.ajhg.2019.07.015
  • ISSN: 0002-9297
  • Origination:
  • Footnote:
  • Access State: Open Access