LEADER 02462nam 2200529 450 001 9910797754403321 005 20230803040901.0 010 $a1-78084-201-5 035 $a(CKB)3710000000506764 035 $a(EBL)1179618 035 $a(SSID)ssj0001599962 035 $a(PQKBManifestationID)16306663 035 $a(PQKBTitleCode)TC0001599962 035 $a(PQKBWorkID)14892927 035 $a(PQKB)10373784 035 $a(MiAaPQ)EBC1179618 035 $a(Au-PeEL)EBL1179618 035 $a(OCoLC)855867483 035 $a(EXLCZ)993710000000506764 100 $a20171116h20132013 uy 0 101 0 $aeng 135 $aur|n|---||||| 181 $ctxt 182 $cc 183 $acr 200 00$aAdvances in Gaucher disease $ebasic and clinical perspectives /$feditor, Gregory A. Grabowski 210 1$aLondon, England :$cFuture Medicine Ltd,$d2013. 210 4$dİ2013 215 $a1 online resource (266 p.) 300 $aDescription based upon print version of record. 311 $a1-78084-203-1 320 $aIncludes bibliographical references at the end of each chapters and index. 327 $aTitle 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 327 $a10. 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 606 $aGaucher's disease 606 $aGaucher's disease$xTreatment 615 0$aGaucher's disease. 615 0$aGaucher's disease$xTreatment. 676 $a616.3997 702 $aGrabowski$b Gregory A. 801 0$bMiAaPQ 801 1$bMiAaPQ 801 2$bMiAaPQ 906 $aBOOK 912 $a9910797754403321 996 $aAdvances in Gaucher disease$93852075 997 $aUNINA