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
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
Select a paper to view details