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Titolo: | Advances in Gaucher disease : basic and clinical perspectives / / editor, Gregory A. Grabowski |
Pubblicazione: | London, England : , : Future Medicine Ltd, , 2013 |
©2013 | |
Descrizione fisica: | 1 online resource (266 p.) |
Disciplina: | 616.3997 |
Soggetto topico: | Gaucher's disease |
Gaucher's disease - Treatment | |
Persona (resp. second.): | GrabowskiGregory A. |
Note generali: | Description based upon print version of record. |
Nota di bibliografia: | Includes bibliographical references at the end of each chapters and index. |
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 | |
Titolo autorizzato: | Advances in Gaucher disease |
ISBN: | 1-78084-201-5 |
Formato: | Materiale a stampa |
Livello bibliografico | Monografia |
Lingua di pubblicazione: | Inglese |
Record Nr.: | 9910797754403321 |
Lo trovi qui: | Univ. Federico II |
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