학술논문
Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy
Document Type
Article
Author
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.; Rodenburg, Richard J.; Huigen, Marleen C.D.G.; Jia, Zhengping; Waterham, Hans R.; Wasserman, Wyeth W.; Wanders, Ronald J.A.; Verhoeven-Duif, Nanda M.; Zaki, Maha S.; Wevers, Ron A.
Source
In The American Journal of Human Genetics 5 September 2019 105(3):534-548
Subject
Language
ISSN
0002-9297