Maria Monticelli

Proteo‐Metabolomic Profiling of PMM2 ‐ CDG Reveals Dysregulation of Retinoic Acid Synthesis, Myo ‐Inositol, and the Hexosamine Pathway

ABSTRACT Phosphomannomutase deficiency (PMM2‐CDG), the most common congenital disorder of glycosylation (CDG), is characterized by multisystem involvement and a lack of disease‐modifying therapies. While previous transcriptomic studies have uncovered disrupted cellular pathways,...