Associated Papers
Transient response to high-dose niacin therapy in a patient with NAXE deficiency.
Al-Amrani F et al.
Jimd Reports, 2024
NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood.
Kremer LS et al.
American Journal of Human Genetics, 2016
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