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CASE OF NAXD DEFICIENCY PRESENTING WITH DEVELOPMENTAL REGRESSION AND PROGRESSIVE ENCEPHALOPATHY
Journal: International Journal of Advanced Research (Vol.12, No. 12)Publication Date: 2024-12-18
Authors : Hajer Alamer Mohammad Al Sumaili; Muhammad Saeed;
Page : 778-785
Keywords : Developmental Regression NAXD Deficiency Neurodegenerative Disorders Metabolic Encephalopathy Whole-Exome Sequencing (WES) Mitochondrial Dysfunction Case Report;
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Abstract
Introduction: Developmental regression in children can indicate underlying neurodegenerative or metabolic diseases, often posing diagnostic and therapeutic challenges.
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