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NAXE deficiency: A neurometabolic disorder of NAD(P)HX repair amenable for metabolic correction

Joshua Manor, Daniel G. Calame, Charul Gijavanekar, Kristen Fisher, Jill V. Hunter, Elizabeth Mizerik, Carlos A. Bacino, Fernando Scaglia, Sarah H. Elsea

2022Molecular Genetics and Metabolism29 citationsDOIOpen Access PDF

Topics & Concepts

NAD+ kinaseMetabolomicsMedicineNeuroprotectionNiacinInternal medicineBiochemistryChemistryBiologyEnzymeBioinformaticsMitochondrial Function and PathologyATP Synthase and ATPases ResearchBiochemical Acid Research Studies
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