Open access
Aug 2026
Proteo‐Metabolomic Profiling of PMM2‐CDG Reveals Dysregulation of Retinoic Acid Synthesis, Myo‐Inositol, and the Hexosamine Pathway
Significant alterations in the retinoic acid synthesis pathway and hexosamine biosynthesis in PMM2‐CDG patient‐derived fibroblasts are identified and an association between intracellular myo‐inositol levels and disease severity is revealed.
Diana Gallego, G. Andreotti, M. Monticelli et al.
· Journal of Inherited Metabol... · 1 citation