Instrumented assessment of gait disturbance in PMM2-CDG adults: a feasibility analysis

Congenital disorders of glycosylation (CDG) are genetic diseases caused by impaired synthesis of glycan moieties linked to glycoconjugates. Phosphomannomutase 2 deficiency (PMM2-CDG), the most frequent CDG, is...

Source: Orphanet Journal of Rare Diseases - February 2, 2024 Category: Internal Medicine Authors: Lara Cirnigliaro, Fabio Pettinato, Maria Stella Valle, Antonino Casabona, Agata Fiumara, Michele Vecchio, Valerio Amico, Renata Rizzo, Jaak Jaeken, Rita Barone and Matteo Cioni Tags: Research Source Type: research