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 KluijtmansMichel 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

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Biochemistry, Genetics and Molecular Biology