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