van Karnebeek, C.D.M., Ramos, R.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. 105(3):534-548

van Karnebeek, C.D.M., Ramos, R.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. 105(3):534-548