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
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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