Publication
Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy
Clara D.M. van Karnebeek, Rúben J. Ramos, Xiao-Yan Wen, Maja Tarailo-Graovac, Joseph G. Gleeson, Cristina Skrypnyk, Koroboshka Brand-Arzamendi, Farhad Karbassi, Mahmoud Y. Issa, Robin van der Lee, Britt I. Drögemöller, Janet Koster, Justine Rousseau, Philippe M. Campeau, Youdong Wang, Feng Cao, Meng Li, Jos Ruiter, Jolita Ciapaite, Leo A.J. Kluijtmans, Michel A.A.P. Willemsen, Judith J. Jans, Colin J. Ross, Liesbeth T. Wintjes, Richard J. Rodenburg, Marleen C.D.G. Huigen, Zhengping Jia, Hans R. Waterham, Wyeth W. Wasserman, Ronald J.A. Wanders, Nanda M. Verhoeven-Duif, Maha S. Zaki, Ron A. Wevers
The American Journal of Human Genetics, September 2019, Elsevier
DOI: 10.1016/j.ajhg.2019.07.015