Associated Papers
Phenotypic diversity in NAXE mutations.
Solmaz I et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
39825153 (PubMed )
Supplement: 41591_2024_3420_MOESM3_ESM.xlsx › SuppTableS4.Disease_Causing
AIBP: A New Safeguard against Glaucomatous Neuroinflammation.
Choi S et al.
Cells, 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
Identification of a novel homozygous mutation in NAXE gene associated with early-onset progressive encephalopathy by whole-exome sequencing: in silico protein structure characterization, molecular docking, and dynamic simulation.
Maalej M et al.
Neurogenetics, 2022
NAXE deficiency: A neurometabolic disorder of NAD(P)HX repair amenable for metabolic correction.
Manor J et al.
Molecular Genetics and Metabolism, 2022
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
33726816 (PubMed )
Supplement: 13073_2021_855_MOESM3_ESM.xlsx › Reported_genes_and_variants
Early-onset progressive encephalopathy associated with NAXE gene variants: a case report of a Turkish child.
Incecık F et al.
Acta Neurologica Belgica, 2020
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