Author

Kacper Kisiński

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Review Open access Aug 2026

Age-Dependent Progression of Neurological Involvement in PRPP Deficiency: Insights from a Four-Generation Family and Systematic Review

This temporal dissociation reflects differential tissue vulnerability to intracellular ATP/GTP and NAD+ depletion caused by the primary enzymatic defect, and represents a continuous PRPS1-related neurometabolic spectrum.

Bartosz Rodziewicz, M. Kacperski, Kacper Kisiński et al. · Biomolecules · 0 citations