Associated Papers
Metabolic cardiomyopathy associated with a compound heterozygous variant in NAD(P)HX dehydratase: a case report and literature review.
Mo L et al.
Translational Pediatrics, 2024
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
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+ homeostasis in human health and disease.
Zapata-Pérez R et al.
Embo Molecular Medicine, 2021
Reply: NAD(P)HX dehydratase protein-truncating mutations are associated with neurodevelopmental disorder exacerbated by acute illness.
Van Bergen NJ et al.
Brain : a Journal of Neurology, 2020
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
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