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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 |
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