van Karnebeek, Clara D. M ;
Ramos, R. ben J ;
Wen, Xiao-Yan...
van Karnebeek , C D M , Ramos , R B J , Wen , X-Y , Tarailo-Graovac , M , Gleeson , J G , Skrypnyk , C , Brand-Arzamendi , K , Karbassi , F , Issa , M Y , van der Lee , R , Drögemöller , B I , Koster , J , Rousseau , J , Campeau , P M , Wang , Y , Cao , F , Li , M , Ruiter , J , Ciapaite , J , Kluijtmans , L A J , Willemsen , M A A P , Jans , J J , Ross , C J , Wintjes , L T , Rodenburg , R J , Huigen , M C D G , Jia , Z , Waterham , H R , Wasserman , W W , Wanders , R J A , Verhoeven-Duif , N M , Zaki , M S & Wevers , R A 2019 , ' Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy ' , American journal of human genetics , vol. 105 , no. 3 , pp. 534-548 . https://doi.org/10.1016/j.ajhg.2019.07.015.
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2019