Clinical and Translational Perspectives on WILSON DISEASE

Clinical and Translational Perspectives on WILSON DISEASE

1st Edition - September 18, 2018

Write a review

  • Editors: Nanda Kerkar, Eve A Roberts
  • Paperback ISBN: 9780128105320
  • eBook ISBN: 9780128105337

Purchase options

Purchase options
DRM-free (EPub, Mobi, PDF)
Sales tax will be calculated at check-out

Institutional Subscription

Free Global Shipping
No minimum order


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
    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

    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

  • No. of pages: 502
  • Language: English
  • Copyright: © Academic Press 2018
  • Published: September 18, 2018
  • Imprint: Academic Press
  • Paperback ISBN: 9780128105320
  • eBook ISBN: 9780128105337

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

Ratings and Reviews

Write a review

There are currently no reviews for "Clinical and Translational Perspectives on WILSON DISEASE"