Associated Papers
Progressive encephalopathy associated with novel compound heterozygous NAXE mutations in a Chinese patient: case report and literature review.
Zhu Y et al.
Frontiers in Pediatrics, 2026
Transient response to high-dose niacin therapy in a patient with NAXE deficiency.
Al-Amrani F et al.
Jimd Reports, 2024
AIBP: A New Safeguard against Glaucomatous Neuroinflammation.
Choi S et al.
Cells, 2024
NAXE deficiency: A neurometabolic disorder of NAD(P)HX repair amenable for metabolic correction.
Manor J et al.
Molecular Genetics and Metabolism, 2022
Genetic heterogeneity in Leigh syndrome: Highlighting treatable and novel genetic causes.
Lee JS et al.
Clinical Genetics, 2020
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