Author

K. M

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Open access Aug 2026

Fatal infantile encephalopathy due to NAXE variant: Navigating the Metabolic-Mitochondrial overlap in NAXE gene

This case highlights the diagnostic complexity of NAXE-related infantile encephalopathy, a disorder with overlapping metabolic and mitochondrial features and a rapidly progressive, treatment-refractory course.

Preeti Joon, K. M, B. Charan et al. · Journal of Rare Diseases · 0 citations