Associated Papers
Deficiency of the NAD(P)HX metabolic repair system: a treatable mitochondrial disease.
Xu C et al.
Orphanet Journal of Rare Diseases, 2026
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
Biallelic GGGCC repeat expansion leading to NAXE-related mitochondrial encephalopathy.
Ozaki K et al.
Npj Genomic Medicine, 2024
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
Long-term follow-up of an attenuated presentation of NAXE-related disease, a potentially actionable neurometabolic disease: a case report.
Almudhry M et al.
Frontiers in Neurology, 2024
De novo mutation of NAXE (APOAIBP)-related early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy-1: A case report.
Ding L et al.
World Journal of Clinical Cases, 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
35866541 (PubMed )
Supplement: JIMD-45-1028-s001.xlsx › Sheet2
NAXE deficiency: A neurometabolic disorder of NAD(P)HX repair amenable for metabolic correction.
Manor J et al.
Molecular Genetics and Metabolism, 2022
NAXE gene mutation-related progressive encephalopathy: A case report and literature review.
Chiu LW et al.
Medicine, 2021
Deciphering genes associated with diffuse large B-cell lymphoma with lymphomatous effusions: A mutational accumulation scoring approach.
Abdollahi S et al.
Biomarker Research, 2021
34635181 (PubMed )
Supplement: 40364_2021_330_MOESM2_ESM.xlsx › ___1
Genetic heterogeneity in Leigh syndrome: Highlighting treatable and novel genetic causes.
Lee JS et al.
Clinical Genetics, 2020
Novel NAXE variants as a cause for neurometabolic disorder: implications for treatment.
Trinh J et al.
Journal of Neurology, 2020
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