Padua Research Archive, l’archivio istituzionale della produzione scientifica dell’Università degli Studi di Padova, ha lo scopo di raccogliere, documentare, conservare e pubblicare, anche ad accesso aperto, i prodotti della ricerca dell’Ateneo. Padua Research Archive utilizza la piattaforma IRIS (Institutional Research Information System) sviluppata da Cineca.
EnglishGlycogenosis type II (GSDII) is an autosomal recessive lysosomal disease caused by a deficiency of alpha-glucosidase. The discovery of the acid alpha-glucosidase gene (GAA) has lead to rapid progress in understanding the molecular basis of GSD II. Three forms of the disease have been described: infantile GSDII results from complete alpha-glucosidase deficiency (Pompe disease), with hypotonia, cardiomegaly; the juvenile form is characterized by onset in the first decade, and cardiac involvement is absent or mild; the adult form of the disease has onset in the 3rd - 6th decade, about 30% of patients present respiratory insufficiency.
| Titolo: | MP 5.06 Protocol for enzyme replacement therapy in late-onset glycogenosis type II (GSDII) |
| Autori: | |
| Data di pubblicazione: | 2007 |
| Rivista: | |
| Abstract: | Glycogenosis type II (GSDII) is an autosomal recessive lysosomal disease caused by a deficiency of alpha-glucosidase. The discovery of the acid alpha-glucosidase gene (GAA) has lead to rapid progress in understanding the molecular basis of GSD II. Three forms of the disease have been described: infantile GSDII results from complete alpha-glucosidase deficiency (Pompe disease), with hypotonia, cardiomegaly; the juvenile form is characterized by onset in the first decade, and cardiac involvement is absent or mild; the adult form of the disease has onset in the 3rd - 6th decade, about 30% of patients present respiratory insufficiency. |
| Handle: | http://hdl.handle.net/11577/3041289 |
| Appare nelle tipologie: | 01.05 - Abstract in rivista |
File in questo prodotto:
Copyright © 2020