Florencia Epifani

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...