Type II glycogenosis (GSDII) is a rare and often fatal neuromuscular disorder caused by acid alpha-glucosidase deficiency. Although alglucosidase alfa enzyme replacement therapy (ERT) significantly improves outcomes in subjects with the infantile form, its efficacy in patients with the late-onset one is not entirely clear. The long-term efficacy of ERT in late-onset GSGII complicated by severe pulmonary impairment causing high mechanical ventilation dependency was investigated in this study.

Vianello, A., Semplicini, C., Paladini, L., Concas, A., Ravaglia, S., Servidei, S., Toscano, A., Mongini, T., Angelini, C., Pegoraro, E., Enzyme replacement therapy improves respiratory outcomes in patients with late-onset type II glycogenosis and high ventilator dependency, <<LUNG>>, 2013; 191 (5): 537-544. [doi:10.1007/s00408-013-9489-x] [http://hdl.handle.net/10807/53934]

Enzyme replacement therapy improves respiratory outcomes in patients with late-onset type II glycogenosis and high ventilator dependency

Servidei, Serenella;
2013

Abstract

Type II glycogenosis (GSDII) is a rare and often fatal neuromuscular disorder caused by acid alpha-glucosidase deficiency. Although alglucosidase alfa enzyme replacement therapy (ERT) significantly improves outcomes in subjects with the infantile form, its efficacy in patients with the late-onset one is not entirely clear. The long-term efficacy of ERT in late-onset GSGII complicated by severe pulmonary impairment causing high mechanical ventilation dependency was investigated in this study.
2013
Inglese
Vianello, A., Semplicini, C., Paladini, L., Concas, A., Ravaglia, S., Servidei, S., Toscano, A., Mongini, T., Angelini, C., Pegoraro, E., Enzyme replacement therapy improves respiratory outcomes in patients with late-onset type II glycogenosis and high ventilator dependency, <<LUNG>>, 2013; 191 (5): 537-544. [doi:10.1007/s00408-013-9489-x] [http://hdl.handle.net/10807/53934]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10807/53934
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