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Advances in Gaucher disease : basic and clinical perspectives / / editor, Gregory A. Grabowski
| Advances in Gaucher disease : basic and clinical perspectives / / editor, Gregory A. Grabowski |
| Pubbl/distr/stampa | London, England : , : Future Medicine Ltd, , 2013 |
| Descrizione fisica | 1 online resource (266 p.) |
| Disciplina | 616.3997 |
| Soggetto topico |
Gaucher's disease
Gaucher's disease - Treatment |
| Soggetto genere / forma | Electronic books. |
| ISBN | 1-78084-201-5 |
| Formato | Materiale a stampa  |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto |
Title page; Copyright page; Contents; Foreword. Advances in Gaucher disease: basic and clinical perspectives; 1. Neuronopathic phenotypes of Gaucher disease; 2. Gaucher disease: a comprehensive review; 3. Gaucher disease: the neurological examination; 4. Relationship between Gaucher disease and parkinsonism; 5. Cytology of Gaucher disease; 6. Glycosphingolipid aspects of Gaucher disease lipidomics; 7. Molecular abnormalities in Gaucher disease tissues; 8. Crystal structure of the enzyme acid b-glucosidase; 9. Processing and maturation of human glucocerebrosidase
10. Properties of wild-type and mutant glucocerebrosidases11. Diagnostic testing (enzyme and mutational analysis); 12. Imaging skeletal involvement in Gaucher disease; 13. Assessment of individual organs: other organs; 14. Biomarkers; 15. Current specific enzyme therapies; 16. Synthesis inhibition therapy for Gaucher disease; Index |
| Record Nr. | UNINA-9910460799703321 |
| London, England : , : Future Medicine Ltd, , 2013 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
Advances in Gaucher disease : basic and clinical perspectives / / editor, Gregory A. Grabowski
| Advances in Gaucher disease : basic and clinical perspectives / / editor, Gregory A. Grabowski |
| Pubbl/distr/stampa | London, England : , : Future Medicine Ltd, , 2013 |
| Descrizione fisica | 1 online resource (266 p.) |
| Disciplina | 616.3997 |
| Soggetto topico |
Gaucher's disease
Gaucher's disease - Treatment |
| ISBN | 1-78084-201-5 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto |
Title page; Copyright page; Contents; Foreword. Advances in Gaucher disease: basic and clinical perspectives; 1. Neuronopathic phenotypes of Gaucher disease; 2. Gaucher disease: a comprehensive review; 3. Gaucher disease: the neurological examination; 4. Relationship between Gaucher disease and parkinsonism; 5. Cytology of Gaucher disease; 6. Glycosphingolipid aspects of Gaucher disease lipidomics; 7. Molecular abnormalities in Gaucher disease tissues; 8. Crystal structure of the enzyme acid b-glucosidase; 9. Processing and maturation of human glucocerebrosidase
10. Properties of wild-type and mutant glucocerebrosidases11. Diagnostic testing (enzyme and mutational analysis); 12. Imaging skeletal involvement in Gaucher disease; 13. Assessment of individual organs: other organs; 14. Biomarkers; 15. Current specific enzyme therapies; 16. Synthesis inhibition therapy for Gaucher disease; Index |
| Record Nr. | UNINA-9910797754403321 |
| London, England : , : Future Medicine Ltd, , 2013 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
Advances in Gaucher disease : basic and clinical perspectives / / editor, Gregory A. Grabowski
| Advances in Gaucher disease : basic and clinical perspectives / / editor, Gregory A. Grabowski |
| Pubbl/distr/stampa | London, England : , : Future Medicine Ltd, , 2013 |
| Descrizione fisica | 1 online resource (266 p.) |
| Disciplina | 616.3997 |
| Soggetto topico |
Gaucher's disease
Gaucher's disease - Treatment |
| ISBN | 1-78084-201-5 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto |
Title page; Copyright page; Contents; Foreword. Advances in Gaucher disease: basic and clinical perspectives; 1. Neuronopathic phenotypes of Gaucher disease; 2. Gaucher disease: a comprehensive review; 3. Gaucher disease: the neurological examination; 4. Relationship between Gaucher disease and parkinsonism; 5. Cytology of Gaucher disease; 6. Glycosphingolipid aspects of Gaucher disease lipidomics; 7. Molecular abnormalities in Gaucher disease tissues; 8. Crystal structure of the enzyme acid b-glucosidase; 9. Processing and maturation of human glucocerebrosidase
10. Properties of wild-type and mutant glucocerebrosidases11. Diagnostic testing (enzyme and mutational analysis); 12. Imaging skeletal involvement in Gaucher disease; 13. Assessment of individual organs: other organs; 14. Biomarkers; 15. Current specific enzyme therapies; 16. Synthesis inhibition therapy for Gaucher disease; Index |
| Record Nr. | UNINA-9910810350103321 |
| London, England : , : Future Medicine Ltd, , 2013 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||