Clinical and Translational Perspectives on WILSON DISEASE P 502 p. 18
目次
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
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