Wilson Disease: Pathogenesis, Molecular Mechanisms, Diagnosis, Treatment and Monitoring translates both clinical and experimental findings into a comprehensive approach for anyone involved in research and patient care. While the clinical variability of Wilson Disease poses a challenge from a diagnostic approach, the book uses the translational impact of new research findings to relate to new treatment concepts. Comprehensive chapters include common knowledge, guideline consensus statements, and discussions of clinical evidence. This is a must-have reference for researchers and clinicians in translational research.
1. Cover image - p. iv 2. Title page - p. iv 3. Table of Contents - p. iv 4. Copyright - p. iv 5. Contributors - p. xi 6. Foreword - p. xiii 7. Part I: History of Wilson Disease - p. xiii 8. Chapter 1: History of Wilson Disease - p. xiii 9. Part II: Molecular Mechanisms - p. 14 10. Chapter 2: Normal Human Copper Metabolism - p. 14 11. Chapter 3: ATP7B Function - p. 22 12. Chapter 4: Biochemical and Cellular Properties of ATP7B Variants - p. 32 13. Chapter 5: Animal Models of Wilson Disease - p. 50 14. Chapter 6: Cellular Copper Toxicity: A Critical Appraisal of Fenton-Chemistry-Based Oxidative Stress in Wilson Disease - p. 63 15. Part III: Epidemiology - p. 81 16. Chapter 7: Epidemiology of Wilson Disease - p. 81 17. Part IV: Diagnosis - p. 94 18. Chapter 8: The Diagnostic Approach to Wilson Disease - p. 94 19. Chapter 9: The Genetics of Wilson Disease - p. 104 20. Chapter 10: Biochemical Markers - p. 114 21. Chapter 11: Diagnosis of Hepatic Wilson Disease - p. 124 22. Chapter 12: Liver Pathology of Wilson Disease - p. 138 23. Chapter 13: Neurological Wilson Disease - p. 144 24. Chapter 14: Psychiatric Symptoms in WD - p. 157 25. Part V: Treatment Decisions - p. 170 26. Chapter 15: General Considerations and the Need for Liver Transplantation - p. 170 27. Chapter 16: Chelation Therapy: d-Penicillamine - p. 182 28. Chapter 17: Trientine for Wilson Disease: Contemporary Issues - p. 185 29. Chapter 18: Tetrathiomolybdate (TTM) - p. 195 30. Chapter 19: Zinc Therapy of Wilson Disease - p. 201 31. Chapter 20: Symptomatic Treatment of Residual Neurological or Psychiatric Disease - p. 207 32. Chapter 21: Other Treatment Regimens and Emerging Therapies - p. 215 33. Part VI: Monitoring - p. 220 34. Chapter 22: Monitoring of Medical Therapy and Copper End Points - p. 220 35. Part VII: Main Challenges in Diagnosis and Treatment - p. 232 36. Chapter 23: Special Treatment Considerations for Wilson Disease - p. 232 37. Index - p. 247
Wilson Disease: Pathogenesis, Molecular Mechanisms, Diagnosis, Treatment and Monitoring translates both clinical and experimental findings into a comprehensive approach for anyone involved in research and patient care. While the clinical variability of Wilson Disease poses a challenge from a diagnostic approach, the book uses the translational impact of new research findings to relate to new treatment concepts. Comprehensive chapters include common knowledge, guideline consensus statements, and discussions of clinical evidence. This is a must-have reference for researchers and clinicians in translational research.
1. Cover image - p. iv 2. Title page - p. iv 3. Table of Contents - p. iv 4. Copyright - p. iv 5. Contributors - p. xi 6. Foreword - p. xiii 7. Part I: History of Wilson Disease - p. xiii 8. Chapter 1: History of Wilson Disease - p. xiii 9. Part II: Molecular Mechanisms - p. 14 10. Chapter 2: Normal Human Copper Metabolism - p. 14 11. Chapter 3: ATP7B Function - p. 22 12. Chapter 4: Biochemical and Cellular Properties of ATP7B Variants - p. 32 13. Chapter 5: Animal Models of Wilson Disease - p. 50 14. Chapter 6: Cellular Copper Toxicity: A Critical Appraisal of Fenton-Chemistry-Based Oxidative Stress in Wilson Disease - p. 63 15. Part III: Epidemiology - p. 81 16. Chapter 7: Epidemiology of Wilson Disease - p. 81 17. Part IV: Diagnosis - p. 94 18. Chapter 8: The Diagnostic Approach to Wilson Disease - p. 94 19. Chapter 9: The Genetics of Wilson Disease - p. 104 20. Chapter 10: Biochemical Markers - p. 114 21. Chapter 11: Diagnosis of Hepatic Wilson Disease - p. 124 22. Chapter 12: Liver Pathology of Wilson Disease - p. 138 23. Chapter 13: Neurological Wilson Disease - p. 144 24. Chapter 14: Psychiatric Symptoms in WD - p. 157 25. Part V: Treatment Decisions - p. 170 26. Chapter 15: General Considerations and the Need for Liver Transplantation - p. 170 27. Chapter 16: Chelation Therapy: d-Penicillamine - p. 182 28. Chapter 17: Trientine for Wilson Disease: Contemporary Issues - p. 185 29. Chapter 18: Tetrathiomolybdate (TTM) - p. 195 30. Chapter 19: Zinc Therapy of Wilson Disease - p. 201 31. Chapter 20: Symptomatic Treatment of Residual Neurological or Psychiatric Disease - p. 207 32. Chapter 21: Other Treatment Regimens and Emerging Therapies - p. 215 33. Part VI: Monitoring - p. 220 34. Chapter 22: Monitoring of Medical Therapy and Copper End Points - p. 220 35. Part VII: Main Challenges in Diagnosis and Treatment - p. 232 36. Chapter 23: Special Treatment Considerations for Wilson Disease - p. 232 37. Index - p. 247
