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
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Gaucher disease -- Diagnosis
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Gaucher disease -- Treatment
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Gaucher Disease
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Gaucher Disease -- diagnosis
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Gaucher Disease -- therapy
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Gaucher disease
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Gaucher disease -- Treatment
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Form |
Electronic book
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Author |
Grabowski, Gregory A.
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Future Medicine Ltd
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ISBN |
9781780842011 |
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1780842015 |
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9781780842028 |
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1780842023 |
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