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
Transient response to high-dose niacin therapy in a patient with NAXE deficiency.
Al-Amrani F et al.
Jimd Reports, 2024
Clinical Untargeted Metabolomics as a Functional Screen to Improve Variant Classification.
Gijavanekar C et al.
Current Protocols, 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
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