Associated Papers
Clinical and biochemical distinctions for a metabolite repair disorder caused by NAXD or NAXE deficiency.
Van Bergen NJ et al.
Journal of Inherited Metabolic Disease, 2022
35866541 (PubMed )
Supplement: JIMD-45-1028-s001.xlsx › Sheet2
NAXE deficiency: A neurometabolic disorder of NAD(P)HX repair amenable for metabolic correction.
Manor J et al.
Molecular Genetics and Metabolism, 2022
Novel NAXE variants as a cause for neurometabolic disorder: implications for treatment.
Trinh J et al.
Journal of Neurology, 2020
Evidence that the metabolite repair enzyme NAD(P)HX epimerase has a moonlighting function.
Niehaus TD et al.
Bioscience Reports, 2018
29654173 (PubMed )
Supplement: bsr20180223_Supp1.pdf
NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood.
Kremer LS et al.
American Journal of Human Genetics, 2016
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