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Article

NAXD Encephalopathy Mimicking Neuroinflammatory Disease.

American journal of medical genetics. Part A - 1 Apr 2026

Garcia Rocio Victoria, Aráoz Hilda Verónica, Pérez María Mercedes, Buompadre Celeste, Montoya Silvina Gomez, Rugilo Carlos, Loria Julian Sanchez, Kim JiHye, Aschettino Giovanna, Alonso Cristina, Monges Soledad, Loos Mariana

Abstract excerpt

Neurometabolic diseases are a group of genetic disorders caused by defects in metabolic networks. To characterize the clinical, radiological, and molecular phenotype of three patients with variants in the NAXD gene, together with a review of the literature. A retrospective review of medical records was conducted. Three patients with chronic, progressive, recurrent encephalopathy triggered by fever were...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 41320557
DOI: 10.1002/ajmga.70013

Genes

NAXD

Variants

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