Identificazione di nuovi approcci terapeutici per la malattie lisosomiali
- 5 Anni 2006/2011
- 409.500€ Totale Fondi
Descrizione non disponibile
Pubblicazioni Scientifiche
- 2009-08-01 EMBO MOLECULAR MEDICINE
Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinics
- 2009-09-01 EUROPEAN JOURNAL OF PEDIATRICS
Vitamin E supplementation improves neutropenia and reduces the frequency of infections in patients with glycogen storage disease type 1b
- 2009-10-01 EUROPEAN JOURNAL OF PEDIATRICS
Mucopolysaccharidosis VI: the Italian experience
- 2009-06-01 HUMAN MUTATION
Identification and Molecular Characterization of Six Novel Mutations in the UDP-N-Acetylglucosamine-1-Phosphotransferase Gamma Subunit (GNPTG) Gene in Patients with Mucolipidosis III Gamma
- 2009-12-01 HUMAN MUTATION
The Pharmacological Chaperone 1-Deoxynojirimycin Increases the Activity and Lysosomal Trafficking of Multiple Mutant Forms of Acid Alpha-Glucosidase
- 2009-06-01 MOLECULAR THERAPY
The Pharmacological Chaperone N-butyldeoxynojirimycin Enhances Enzyme Replacement Therapy in Pompe Disease Fibroblasts
- 2008-12-02 NEUROLOGY
Management and treatment of glycogenosis type II
- 2008-12-02 NEUROLOGY
Diagnosis of glycogenosis type II
