Skip to main content
Elsevier
View Cart

Clinical and Translational Perspectives on WILSON DISEASE

  • 1st Edition - September 18, 2018
  • Latest edition
  • Editors: Nanda Kerkar, Eve A Roberts
  • Language: English

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

World Book Day celebration

Where learning shapes lives

Up to 25% off trusted resources that support research, study, and discovery.

Explore resources

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.

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

Readership

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

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

Product details

  • Edition: 1
  • Latest edition
  • Published: September 24, 2018
  • Language: English

About the editors

NK

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

ER

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

View book on ScienceDirect

Read Clinical and Translational Perspectives on WILSON DISEASE on ScienceDirect