Concepedia

Wilson Disease

Wilson Disease is a rare autosomal recessive disorder of copper metabolism characterized by pathological accumulation of copper in the liver, brain, and other organs, distinguished from other movement disorders by its specific association with ATP7B gene mutations and systemic manifestations.

2.3K

Publications

123.9K

Citations

8.5K

Authors

2K

Institutions

Publications per year

2017–2026

355

Variants

Hepatolenticular DegenerationWilson's Disease

Parents

Children

Publications

2.3K

The Wilson disease gene is a putative copper transporting P–type ATPase similar to the Menkes gene

Peter C. Bull, Gordon R. Thomas, Johanna M. Rommens et al. · Nature Genetics · 1993 · 2K citations

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The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene

Rudolph E. Tanzi, Konstantin Petrukhin, Jean‐Luc Pellequer et al. · Nature Genetics · 1993 · 1.4K citations

, , +10

Diagnosis and treatment of Wilson disease: An update

Eve A. Roberts, Michael L. Schilsky · Hepatology · 2008 · 1.3K citations · Full text

, , +6

EASL Clinical Practice Guidelines: Wilson’s disease

Journal of Hepatology · 2012 · 1.2K citations

, , +7

Penicillamine, a new oral therapy for Wilson's disease

J.M. Walshe · The American Journal of Medicine · 1956 · 717 citations

, , +5

1–5 of 2.3K

Authors

8.5K

  1. SL
    Svetlana Lutsenko

    Johns Hopkins University, United States

    54 publications · 4.9K citations

    41

    h-index

  2. GJ
    George J. Brewer

    University of Michigan, United States

    52 publications · 4.9K citations

    37

    h-index

  3. IS
    Irmin Sternlieb

    Albert Einstein College of Medicine, United States

    48 publications · 6.1K citations

    36

    h-index

  4. JW
    J.M. Walshe

    University of Cambridge, United Kingdom

    59 publications · 5.1K citations

    35

    h-index

  5. AC
    Anna Członkowska

    Institute of Psychiatry and Neurology, Poland

    74 publications · 3.8K citations

    35

    h-index

1–5 of 8.5K

Institutions

2K

  1. University of Michigan

    Ann Arbor, United States

    43 h-index

    193 publications

    27.2K citations

  2. Heidelberg University

    Heidelberg, Germany

    37 h-index

    243 publications

    18.5K citations

  3. Institute of Psychiatry and Neurology

    Warsaw, Poland

    36 h-index

    263 publications

    12.2K citations

  4. Albert Einstein College of Medicine

    Bronx, United States

    33 h-index

    121 publications

    10.2K citations

  5. University Hospital Heidelberg

    Heidelberg, Germany

    33 h-index

    215 publications

    14.5K citations

  6. Oregon Health & Science University

    Portland, United States

    31 h-index

    88 publications

    10.9K citations

  7. Johns Hopkins University

    Baltimore, United States

    30 h-index

    141 publications

    14.3K citations

  8. Medical University of Warsaw

    Warsaw, Poland

    28 h-index

    104 publications

    4.8K citations

1–8 of 2K

Venues

  1. PubMed

    Repository · 227 publications · 7.6K citations

    47

    h-index

  2. Journal of Biological Chemistry

    JBC · 43 publications · 4.9K citations

    40

    h-index

  3. Hepatology

    48 publications · 5.9K citations

    33

    h-index

  4. Gastroenterology

    36 publications · 3.9K citations

    31

    h-index

  5. Movement Disorders

    40 publications · 2.7K citations

    27

    h-index

1–5