Bi-allelic GOT2 mutations cause a treatable malate-aspartate shuttle-related encephalopathy

Clara van Karnebeek, Rúben Ramos, Xiao-Yan Wen, Maja Tarailo-Graovac, Joseph Gleeson, Cristina Skrypnyk, Koroboshka Brand-Arzamendi, Farhad Karbassi, Mahmoud Issa, Robin van der Lee, Britt Drögemöller, Janet Koster, Justine Rousseau, Philippe Campeau, Youdong Wang, Feng Cao, Meng Li, Jos Ruiter, Jolita Ciapaite, Leo Kluijtmans, Michel Willemsen, Judith Jans, Colin Ross, Liesbeth Wintjes, Richard Rodenburg, Marleen Huigen, Zhengping Jia, Hans Waterham, Wyeth Wasserman, Ronald Wanders, Nanda Verhoeven-Duif, Maha Zaki, Ron Wevers
January 2019
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Type
Journal article
Publication
American Journal of Human Genetics