NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood - Distelmaier, F.; Kremer, L.; Danhauser, K.; Herebian, D.; Müller-Felber, W.; Haack, T.; Mayatepek, E.; Strom, T.; Meitinger, T.; Klopstock, T.; Pronicka, E.; Mayr, J.; Baric, I.; Prokisch, H. (Neuropediatrics, 2017)