Gaucher Disease
eBook - ePub

Gaucher Disease

  1. English
  2. ePUB (mobile friendly)
  3. Available on iOS & Android
eBook - ePub

Gaucher Disease

About this book

In September of 2007 Gaucher Disease received a commendation in the Haematology category of the 2007 British Medical Association Medical Book Competition! Although rare in the general population, Gaucher disease is the most prevalent of the lysosomal storage disorders, making research into this particular orphan disorder an invaluable proto

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Yes, you can access Gaucher Disease by Anthony H. Futerman,Ari Zimran in PDF and/or ePUB format, as well as other popular books in Medicine & Hematology. We have over one million books available in our catalogue for you to explore.

Information

Publisher
CRC Press
Year
2006
eBook ISBN
9781040199039
Topic
Medicine
Subtopic
Hematology

Table of contents

  1. Cover Page
  2. Halftitle Page
  3. Title Page
  4. Copyright Page
  5. Preface
  6. The Editors
  7. Contributors
  8. Contents
  9. CHAPTER 1: Introduction: Overview and Historical Perspective
  10. CHAPTER 2: Gaucher Disease: Molecular Biology and Genotype-Phenotype Correlations
  11. CHAPTER 3: Cell Biology and Biochemistry of Acid ß-Glucosidase: The Gaucher Disease Enzyme
  12. CHAPTER 4: Saposin C and Other Sphingolipid Activator Proteins
  13. CHAPTER 5: The X-Ray Structure of Human Acid-ß-Glucosidase: Implications for Second-Generation Enzyme Replacement Therapy
  14. CHAPTER 6: Cellular Pathology in Gaucher Disease
  15. CHAPTER 7: The Biochemistry and Cellular Biology of Sphingolipids and Glucosylceramide
  16. CHAPTER 8: The Development of Enzyme Replacement Therapy for Lysosomal Diseases: Gaucher Disease and Beyond
  17. CHAPTER 9: Gaucher Disease Animal Models
  18. CHAPTER 10: Type 1 Gaucher Disease — Clinical Features
  19. CHAPTER 11: Neuronopathic Gaucher Disease
  20. CHAPTER 12: Pathologic Anatomy of Gaucher Disease: A Pictorial Essay
  21. CHAPTER 13: Neuropathological Aspects of Gaucher Disease
  22. CHAPTER 14: Diagnosis and Laboratory Features
  23. CHAPTER 15: Imaging in Gaucher Disease, Focusing on Bone Pathology
  24. CHAPTER 16: Radionuclide Evaluation of Gaucher Disease
  25. CHAPTER 17: Epidemiology and Screening Policy
  26. CHAPTER 18: Enzyme Replacement Therapy for Type I Gaucher Disease
  27. CHAPTER 19: Substrate Reduction Therapy
  28. CHAPTER 20: Pharmacologic Chaperone Therapy for Lysosomal Diseases
  29. CHAPTER 21: The Significance of the Blood-Brain Barrier for Gaucher Disease and Other Lysosomal Storage Diseases
  30. CHAPTER 22: Hematopoietic Stem Cell Transplantation, Stem Cells, and Gene Therapy
  31. CHAPTER 23: Ethical Concerns in Treating Rare Diseases with Expensive Therapy
  32. CHAPTER 24: Societal Aspects in Treating Rare Diseases with Expensive Therapy
  33. CHAPTER 25: Gaucher Disease as a Model for an Orphan Disease: Medical Aspects
  34. CHAPTER 26: Meeting the Needs of Patients with Gaucher Disease: Pioneering a Sustainable Model for Ultra-Orphan Diseases
  35. CHAPTER 27: Patients’ Perspective
  36. CHAPTER 28: Societal Perspective: Comment
  37. CHAPTER 29: Gaucher Associations Around the World
  38. Index