Associated Papers
Transient response to high-dose niacin therapy in a patient with NAXE deficiency.
Al-Amrani F et al.
Jimd Reports, 2024
Nuclear Mitochondrial Disorder Due to a Variant in NAXE in Two Unrelated Indian Children.
Rao SS et al.
Indian Journal of Pediatrics, 2024
De novo mutation of NAXE (APOAIBP)-related early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy-1: A case report.
Ding L et al.
World Journal of Clinical Cases, 2023
Clinical Untargeted Metabolomics as a Functional Screen to Improve Variant Classification.
Gijavanekar C et al.
Current Protocols, 2023
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
A novel homozygous missense variant in the NAXE gene in an Iranian family with progressive encephalopathy with brain edema and leukoencephalopathy.
Mohammadi P et al.
Acta Neurologica Belgica, 2022
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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