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E-book

Title Gaucher disease / edited by Anthony H. Futerman, Ari Zimran
Published Boca Raton : CRC/Taylor & Francis, [2007]
©2007
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Description 1 online resource (528 pages, 8 unnumbered pages of plates) : illustrations (some color)
Series BIOSCIENCEnetBASE
Contents 880-01 Chapter 7. The Biochemistry and Cellular Biology of Sphingolipids and GlucosylceramideChapter 8. The Development of Enzyme Replacement Therapy for Lysosomal Diseases: Gaucher Disease and Beyond; Chapter 9. Gaucher Disease Animal Models; Chapter 10. Type 1 Gaucher Disease -- Clinical Features; Chapter 11. Neuronopathic Gaucher Disease; Chapter 12. Pathologic Anatomy of Gaucher Disease: A Pictorial Essay; Chapter 13. Neuropathological Aspects of Gaucher Disease; Chapter 14. Diagnosis and Laboratory Features; Chapter 15. Imaging in Gaucher Disease, Focusing on Bone Pathology
880-01 Front Cover; Preface; The Editors; Contributors; Contents; Chapter 1. Introduction: Overview and Historical Perspective; Chapter 2. Gaucher Disease: Molecular Biology and Genotype-Phenotype Correlations; Chapter 3. Cell Biology and Biochemistry of Acid β-Glucosidase: The Gaucher Disease Enzyme; Chapter 4. Saposin C and Other Sphingolipid Activator Proteins; Chapter 5. The X-Ray Structure of Human Acid-β-Glucosidase: Implications for Second-Generation Enzyme Replacement Therapy; Chapter 6. Cellular Pathology in Gaucher Disease
Chapter 16. Radionuclide Evaluation of Gaucher DiseaseChapter 17. Epidemiology and Screening Policy; Chapter 18. Enzyme Replacement Therapy for Type I Gaucher Disease; Chapter 19. Substrate Reduction Therapy; Chapter 20. Pharmacologic Chaperone Therapy for Lysosomal Diseases; Chapter 21. The Significance of the Blood-Brain Barrier for Gaucher Disease and Other Lysosomal Storage Diseases; Chapter 22. Hematopoietic Stem Cell Transplantation, Stem Cells, and Gene Therapy; Chapter 23. Ethical Concerns in Treating Rare Diseases with Expensive Therapy
Chapter 24. Societal Aspects in Treating Rare Diseases with Expensive TherapyChapter 25. Gaucher Disease as a Model for an Orphan Disease: Medical Aspects; Chapter 26. Meeting the Needs of Patients with Gaucher Disease: Pioneering a Sustainable Model for Ultra-Orphan Diseases; Chapter 27. Patients' Perspective; Chapter 28. Societal Perspective: Comment; Chapter 29. Gaucher Associations Around the World; Index
Summary <STRONG> ""The book is a very valuable source for specialists interested in various aspects of Gaucher disease ... There is no doubt that this book will be very useful for medical schools and university students and their teachers involved in study of rare human diseases."" </STRONG> --in Biokhimiya , 2008
Bibliography Includes bibliographical references and index
Notes Print version record
Subject Gaucher disease.
Gaucher Disease.
Form Electronic book
Author Futerman, Anthony H.
Zimran, Ari.
ISBN 0849338166
1420005502 (electronic bk.)
9780849338168
9781420005509 (electronic bk.)
(alk. paper)