00855nam a22002411i 450099100370887970753620030917131152.0031111s1962 xxu|||||||||||||||||eng b12463917-39ule_instARCHE-049720ExLDip.to LingueitaA.t.i. Arché s.c.r.l. Pandora Sicilia s.r.l.813Caldwell, Erskine196343Close to home /Erskine CaldwellNew York :New American library,c1962143 p. ;18 cmSignet books ;5143.b1246391702-04-1413-11-03991003708879707536LE012 818.54 CAL 1812012000125636le012-E0.00-l- 00000.i1289424213-11-03Close to home179637UNISALENTOle01213-11-03ma -engxxu0102462nam 2200529 450 991081035010332120230803040901.01-78084-201-5(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 diseaseTreatmentGaucher's disease.Gaucher's diseaseTreatment.616.3997Grabowski Gregory A.MiAaPQMiAaPQMiAaPQBOOK9910810350103321Advances in Gaucher disease4032830UNINA