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Author

Pedro Seoane

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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. · 1 citation

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