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Clinical and Translational Perspectives on WILSON DISEASE - 1st Edition - ISBN: 9780128105320, 9780128105337

Clinical and Translational Perspectives on WILSON DISEASE

1st Edition

Editors: Nanda Kerkar Eve A Roberts
Paperback ISBN: 9780128105320
eBook ISBN: 9780128105337
Imprint: Academic Press
Published Date: 24th September 2018
Page Count: 502
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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.

Key Features

  • 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


Clinical and basic scientists with a research interest in Wilson Disease; Clinicians including Gastroenterologists and Hepatologists

Table of Contents

1. Introduction
2. History

Cellular physiology
3. Biological aspects of copper
4. Cu uptake (CTR1 etc)
5. Wilson ATPase structure
6. Wilson ATPase function
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

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


No. of pages:
© Academic Press 2019
24th September 2018
Academic Press
Paperback ISBN:
eBook ISBN:

About the Editors

Nanda Kerkar

Nanda Kerkar has trained at King's College Hospital, London, United Kingdom as a hepatologist/liver transplant physician and did her research in the laboratory on autoimmune liver disease at the Institute of Hepatology, University College London. She has been practicing in the United States since 2002 and was the Medical director of the Pediatric Liver Transplant Programs at Mount Sinai School of Medicine, New York and then Children's Hospital of Los Angeles, before moving to Rochester in 2017 to build a liver Transplant Program for children in Rochester. She is Professor of Pediatrics at University of Rochester Medical Center and Director of Pediatric Hepatology and Liver Transplantation at Golisano Childrens Hospital, Rochester. She is also Adjunct Professor of Pediatrics at University of Southern California on Los Angeles. She has been involved in highly productive clinical research in children’s liver disease and has been named to the American Pediatric Society in 2014. She has lectured nationally and internationally and has over 100 peer reviewed publications.

Affiliations and Expertise

Professor of Pediatrics Director of Liver Disease and Liver Transplantation Division of Gastroenterology, Hepatology & Nutrition Department of Pediatrics Golisano Children’s Hospital University of Rochester Medical Center Rochester, New York & Adjunct Professor Department of Pediatrics University of Southern California Los Angeles, California, USA

Eve A Roberts

Eve Roberts trained with Professor Dame Sheila Sherlock at the Royal Free Hospital in London, United Kingdom, and became a pediatric hepatologist and researcher at the Hospital for Sick Children in Toronto. She was the clinician on the team which identified the gene abnormal in Wilson disease and she later collaborated to develop metalloproteomics as a research strategy for Wilson disease. She has written extensively on Wilson disease and pediatric hepatology. Previously full professor and senior scientist, she is currently an adjunct professor of Paediatrics, Medicine and Pharmacology & Toxicology at the University of Toronto, and an adjunct scientist in the Genetics and Genomic Medicine program of the Hospital for Sick Children Research Institute. Additionally, she is an Associate Fellow in the History of Science and Technology Programme at the University of King’s College in Halifax, Nova Scotia.

Affiliations and Expertise

Professor of Paediatrics, Medicine and Pharmacology, Research Associate, University of King’s college in Halifax, NS, USA

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