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Sponsored AI Networking Cookbook: Practical recipes for AI-assisted network automation and development AI Networking Cookbook: Practical recipes for AI-assisted network automation and development

Author

Mercedes Serrano

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Clinical trial Open access Sep 2026

Results From a Phase 2, Open‐Label Study Evaluating the Safety, Tolerability, and Effect on Ataxia of GLM101 in Three Adult Patients With PMM2‐CDG

Phosphomannomutase 2 congenital disorder of glycosylation (PMM2‐CDG) is a rare, autosomal recessive disease caused by PMM2 deficiency, which impairs conversion of mannose‐6‐phosphate into mannose‐1‐phosphate (M1P) and disrupts N‐linked glycosylation. It typically results in a multisystem disorder in which a prominent c...

Mercedes Serrano, Florencia Epifani, Rose Marino et al. · 0 citations
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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