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Title Advances in Gaucher disease : basic and clinical perspectives / editor, Gregory A. Grabowski
Published London, England : Future Medicine Ltd (Unitec House, 2 Albert Place, London N3 1QB, UK), ©2013
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Description 1 online resource (260 pages) : color illustrations, digital file
Contents Advances in Gaucher disease : basic and clinical perspectives / Gregory A. Grabowski -- Neuronopathic phenotypes of Gaucher disease / Raphael Schiffmann -- Gaucher disease : a comprehensive review / Barry E. Rosenbloom & Neal J. Weinreb -- Gaucher disease : the neurological examination / Edwin H. Kolodny -- Relationship between Gaucher disease and parkinsonism / Kirti Johal, Grisel Lopez & Ellen Sidransky -- Cytology of Gaucher disease / Manoj Kumar Pandey & Gregory A. Grabowski -- Glycosphingolipid aspects of Gaucher disease lipidomics / Ying Sun & Wujuan Zhang -- Molecular abnormalities in Gaucher disease tissues / You-Hai Xu, Nupur Dasgupta & Gregory A. Grabowski -- Crystal structure of the enzyme acid b-glucosidase / Marc N. Offman, Israel Silman, Joel L. Sussman & Anthony H. Futerman -- Processing and maturation of human glucocerebrosidase / Inna Bendikov-Bar, Gali Maor & Mia Horowitz -- Properties of wild-type and mutant glucocerebrosidases / Gregory A. Grabowski -- Diagnostic testing (enzyme and mutational analysis) / Marie T. Vanier & Roseline Froissart -- Imaging skeletal involvement in Gaucher disease / Laura van Dussen, Mario Maas & Thomas N. Hangartner -- Assessment of individual organs : other organs / Deborah Elstein -- Biomarkers / Lorne Clarke -- Current specific enzyme therapies / Can Ficicioglu & Paige Kaplan -- Synthesis inhibition therapy for Gaucher disease / James A. Shayman -- Index
Bibliography Includes bibliographical references and index
Subject Gaucher Disease -- diagnosis.
Gaucher Disease -- therapy.
Gaucher Disease.
Gaucher disease -- Diagnosis
Gaucher disease -- Treatment
Gaucher disease.
Gaucher disease -- Treatment.
Gaucher disease.
Genre/Form Electronic books.
Form Electronic book
Author Grabowski, Gregory A.
Future Medicine Ltd
ISBN 1780842015
1780842023
9781780842011
9781780842028