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