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
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
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