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 | Van Bergen, N.* , Guo, Y.* , Rankin, J.* , Paczia, N.* , Becker-Kettern, J.* , Kremer, L., Pyle, A., Conrotte, J.-F., Ellaway, C., Procopis, P., Prelog, K., Homfray, T., Baptista, J., Baple, E., Wakeling, M., Massey, S., Kay, D., Shukla, A., Girisha, K., ... Hakonarson, H. (01 January 2019). NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses. Brain: a Journal of Neurology, 142 (1), 50-58. doi:10.1093/brain/awy310 Peer Reviewed verified by ORBi* These authors have contributed equally to this work. |
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 | Becker-Kettern, J., Paczia, N., Conrotte, J.-F., Zhu, C., Fiehn, O., Jung, P., Steinmetz, L., & Linster, C. (2018). NAD(P)HX repair deficiency causes central metabolic perturbations in yeast and human cells. FEBS Journal. doi:10.1111/febs.14631 Peer Reviewed verified by ORBi |
