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Record Nr. |
UNINA9910797754403321 |
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Titolo |
Advances in Gaucher disease : basic and clinical perspectives / / editor, Gregory A. Grabowski |
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Pubbl/distr/stampa |
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London, England : , : Future Medicine Ltd, , 2013 |
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©2013 |
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ISBN |
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Descrizione fisica |
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1 online resource (266 p.) |
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Disciplina |
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Soggetti |
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Gaucher's disease |
Gaucher's disease - Treatment |
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Lingua di pubblicazione |
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Formato |
Materiale a stampa |
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Livello bibliografico |
Monografia |
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Note generali |
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Description based upon print version of record. |
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Nota di bibliografia |
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Includes bibliographical references at the end of each chapters and index. |
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Nota di contenuto |
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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 |
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