Clinical and Translational Perspectives on Wilson Disease brings together the genetics, cell and structural biology of Wilson Disease into one contemporary, easy to navigate handbook. Created to meet the diverse needs of the clinical and research communities surrounding Wilson Disease, this reference provides a worldwide approach that is concise and translational. Specifically, it provides a basis for clinicians to appreciate 'basic science' aspects of Wilson disease, presenting a guide for researchers to understand the clinical disorder on which their research is focused and fostering constructive dialogue and progress for this puzzling disorder. - Delivers numerous, succinct, expert chapters with summaries designed for quick reference - Includes a 'How-to appendix' for diagnosis and management tips - Contains access to a companion website with a self-help teaching module, links to key resources, and an extended reference list
Klappentext
Clinical and Translational Perspectives on Wilson Disease brings together the genetics, cell and structural biology of Wilson Disease into one contemporary, easy to navigate handbook. Created to meet the diverse needs of the clinical and research communities surrounding Wilson Disease, this reference provides a worldwide approach that is concise and translational. Specifically, it provides a basis for clinicians to appreciate 'basic science' aspects of Wilson disease, presenting a guide for researchers to understand the clinical disorder on which their research is focused and fostering constructive dialogue and progress for this puzzling disorder.
- Delivers numerous, succinct, expert chapters with summaries designed for quick reference
- Includes a 'How-to appendix' for diagnosis and management tips
- Contains access to a companion website with a self-help teaching module, links to key resources, and an extended reference list
Inhalt
1. Introduction 2. History
Cellular physiology 3. Biological aspects of copper 4. Cu uptake (CTR1 etc) 5. Wilson ATPase structure 6. Wilson ATPase function 7. COMMD1 8. Cu in mitochondria 9. Ceruloplasmin 10. Metalloproteomics 11. Cu disposition in bacteria 12. Cu disposition in yeast 13. Animal models-KO mouse
ATP7B gene 14. Characteristics of gene; genetic diagnosis 15. Epigenetics
Clinical aspects 16. WD in adults 17. WD in children 18. Neuro-WD 19. Psychiatric-WD 20. Ophthalmological-WD 21. Biochemical diagnosis 22. Direct determination of NCB-Cu 23. Histopathology 24. Imaging--CNS 25. Role of scoring systems 26. Screening (population; kindreds) 27. Genetic counselling
WD around the world 28. Regional WD: northern Europe 29. Regional WD: Sardinia/ Mediterranean Europe 30. Regional WD: Israel 31. Regional WD: Brazil 32. Regional WD: India 33. Regional WD: China
Treatment 34. Treatment: D-penicillamine 35. Treatment: trientine 36. Treatment: zinc 37. Adherence to medications 38. Liver transplantation 39. New treatment modalities
Special issues related to Wilson disease 40. Wilsonian fulminant hepatic failure 41. Pregnancy 42. WD-mimics 43. ATP7B and Alzheimer disease
Related issues of copper disposition and disease 44. ATP7A disorders 45. Other disorders of copper-handling