Nanda Kerkar,
Eve A Roberts
Elsevier Science
e druk, 2018
9780128105320
Clinical and Translational Perspectives on WILSON DISEASE
Specificaties
Paperback, blz.
|
Engels
Elsevier Science |
e druk, 2018
ISBN13: 9780128105320
Rubricering
Levertijd ongeveer 8 werkdagen
Samenvatting
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.
Specificaties
Inhoudsopgave
<p>1. Introduction<br>2. History </p> <p>Cellular physiology<br>3. Biological aspects of copper<br>4. Cu uptake (CTR1 etc) <br>5. Wilson ATPase structure<br>6. Wilson ATPase function<br>7. COMMD1<br>8. Cu in mitochondria<br>9. Ceruloplasmin<br>10. Metalloproteomics<br>11. Cu disposition in bacteria<br>12. Cu disposition in yeast<br>13. Animal models—KO mouse</p> <p>ATP7B gene<br>14. Characteristics of gene; genetic diagnosis<br>15. Epigenetics</p> <p>Clinical aspects<br>16. WD in adults<br>17. WD in children<br>18. Neuro-WD<br>19. Psychiatric-WD<br>20. Ophthalmological-WD<br>21. Biochemical diagnosis<br>22. Direct determination of NCB-Cu<br>23. Histopathology<br>24. Imaging--CNS<br>25. Role of scoring systems<br>26. Screening (population; kindreds)<br>27. Genetic counselling</p> <p>WD around the world<br>28. Regional WD: northern Europe<br>29. Regional WD: Sardinia/ Mediterranean Europe<br>30. Regional WD: Israel<br>31. Regional WD: Brazil<br>32. Regional WD: India<br>33. Regional WD: China</p> <p>Treatment<br>34. Treatment: D-penicillamine<br>35. Treatment: trientine<br>36. Treatment: zinc<br>37. Adherence to medications<br>38. Liver transplantation<br>39. New treatment modalities</p> <p>Special issues related to Wilson disease<br>40. Wilsonian fulminant hepatic failure<br>41. Pregnancy<br>42. WD-mimics<br>43. ATP7B and Alzheimer disease</p> <p>Related issues of copper disposition and disease<br>44. ATP7A disorders<br>45. Other disorders of copper-handling</p>