Associated Papers
Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome May Present in Adulthood after Mild Head Trauma.
Van Bergen NJ et al.
International Journal of Molecular Sciences, 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 Case with NAD(P)HX Dehydratase (NAXD) Deficiency: A Newly Defined Mutation in a Novel Neurodegenerative Disorder.
Oz Tuncer G et al.
Molecular Syndromology, 2022
NAD(P)HX dehydratase (NAXD) deficiency due to a novel biallelic missense variant and review of literature.
Majethia P et al.
European Journal of Medical Genetics, 2021
NAD(P)HX dehydratase protein-truncating mutations are associated with neurodevelopmental disorder exacerbated by acute illness.
Borna NN et al.
Brain : a Journal of Neurology, 2020
NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses.
Van Bergen NJ et al.
Brain : a Journal of Neurology, 2019
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