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1st Edition - September 18, 2018
Editors: Nanda Kerkar, Eve A Roberts
Clinical and Translational Perspectives on Wilson Disease brings together the genetics, cell and structural biology of Wilson Disease into one contemporary, easy to navigate… Read more
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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.
Clinical and basic scientists with a research interest in Wilson Disease; Clinicians including Gastroenterologists and Hepatologists
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
NK
ER