Description
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
Table of Contents
1. Introduction2. HistoryCellular physiology3. Biological aspects of copper4. Cu uptake (CTR1 etc) 5. Wilson ATPase structure6. Wilson ATPase function7. COMMD18. Cu in mitochondria9. Ceruloplasmin10. Metalloproteomics11. Cu disposition in bacteria12. Cu disposition in yeast13. Animal models—KO mouseATP7B gene14. Characteristics of gene; genetic diagnosis15. EpigeneticsClinical aspects16. WD in adults17. WD in children18. Neuro-WD19. Psychiatric-WD20. Ophthalmological-WD21. Biochemical diagnosis22. Direct determination of NCB-Cu23. Histopathology24. Imaging--CNS25. Role of scoring systems26. Screening (population; kindreds)27. Genetic counsellingWD around the world28. Regional WD: northern Europe29. Regional WD: Sardinia/ Mediterranean Europe30. Regional WD: Israel31. Regional WD: Brazil32. Regional WD: India33. Regional WD: ChinaTreatment34. Treatment: D-penicillamine35. Treatment: trientine36. Treatment: zinc37. Adherence to medications38. Liver transplantation39. New treatment modalitiesSpecial issues related to Wilson disease40. Wilsonian fulminant hepatic failure41. Pregnancy42. WD-mimics43. ATP7B and Alzheimer diseaseRelated issues of copper disposition and disease44. ATP7A disorders45. Other disorders of copper-handling
