par Vanherpe, Pieternel;Fieuws, S;D'Hondt, A.;Bleyenheuft, Corinne;Demaerel, P;De Bleecker, Jan;Vann Den Bergh, P.Y.K. P.Y.K.;Baets, Jonathan;Remiche, Gauthier ;Verhoeven, K;Delstanche, Stéphanie;Toussaint, Michel;Buyse, Bertien;Van Damme, Philip;Depuydt, C E;Claeys, Kristl G
Référence Orphanet journal of rare diseases, 15, 1, page (83)
Publication Publié, 2020-04-01
Référence Orphanet journal of rare diseases, 15, 1, page (83)
Publication Publié, 2020-04-01
Article révisé par les pairs
Résumé : | Late-onset Pompe disease (LOPD) is a rare, hereditary, progressive disorder that is usually characterized by limb-girdle muscle weakness and/or respiratory insufficiency. LOPD is caused by mutations in the acid alpha-glucosidase (GAA) gene and treated with enzyme replacement therapy (ERT). |