02496nam 2200541 450 991046079970332120200520144314.01-78084-201-5(CKB)3710000000506764(EBL)1179618(SSID)ssj0001599962(PQKBManifestationID)16306663(PQKBTitleCode)TC0001599962(PQKBWorkID)14892927(PQKB)10373784(MiAaPQ)EBC1179618(Au-PeEL)EBL1179618(OCoLC)855867483(EXLCZ)99371000000050676420171116h20132013 uy 0engur|n|---|||||txtccrAdvances in Gaucher disease basic and clinical perspectives /editor, Gregory A. GrabowskiLondon, England :Future Medicine Ltd,2013.©20131 online resource (266 p.)Description based upon print version of record.1-78084-203-1 Includes bibliographical references at the end of each chapters and index.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 glucocerebrosidase10. 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; IndexGaucher's diseaseGaucher's diseaseTreatmentElectronic books.Gaucher's disease.Gaucher's diseaseTreatment.616.3997Grabowski Gregory A.MiAaPQMiAaPQMiAaPQBOOK9910460799703321Advances in Gaucher disease1994677UNINA