Evidence map›Paper›PMID 30190489›Full record

ReviewNature reviews. Disease primers2018

Wilson disease.

Anna Członkowska, Tomasz Litwin, Petr Dusek, Peter Ferenci, Svetlana Lutsenko, Valentina Medici, Janusz K Rybakowski, Karl Heinz Weiss, Michael L Schilsky

Abstract readReview
In one paragraph

Review in Nature reviews. Disease primers, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 502 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
502citing papers in PubMed, 3 pooled it
30.3field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

502 citing papers in PubMed, 3 syntheses or guidelines pooled it, 852 citations in OpenAlex.

  1. Pooled it
  2. Genetics of catatonia: a systematic review of case reports and a gene pathway analysis.European psychiatry : the journal of the Association of European Psychiatrists · 2025
    Pooled it
  3. Pooled it
  4. Review
  5. Review
  6. Review
  7. Cuproptosis and the bioinorganic basis of copper-induced cell death.Journal of biological inorganic chemistry : JBIC : a publication of the Society of Biological Inorganic Chemistry · 2026
    Review
  8. Article
  9. Article
  10. Review
  11. [Development and validation of a machine learning-based prediction model for fatty liver in Wilson disease].Nan fang yi ke da xue xue bao = Journal of Southern Medical University · 2026
    Article
  12. Article
  13. A diagnostic dilemma in a child with Wilson's disease.Pediatric nephrology (Berlin, Germany) · 2026
    Article
  14. Article
  15. Metallothionein and neurodegenerative diseases.Neural regeneration research · 2026
    Article
  16. A Novel HomozygousACG case reports journal · 2026
    Article
  17. Review
  18. Review
  19. Article
  20. Review

442 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors at 8 institutions in 5 countries.

Anna Członkowska2nd Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland. czlonkow@ipin.edu.pl.
Tomasz Litwin2nd Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland.
Petr DusekDepartment of Neurology and Centre of Clinical Neuroscience, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Peter FerenciInternal Medicine 3, Department of Gastroenterology and Hepatology, Medical University of Vienna, Vienna, Austria.
Svetlana LutsenkoDepartment of Physiology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Valentina MediciDivision of Gastroenterology and Hepatology, Department of Internal Medicine, University of California, Davis, Sacramento, CA, USA.
Janusz K RybakowskiDepartment of Adult Psychiatry, Poznań University of Medical Sciences, Poznań, Poland.
Karl Heinz WeissDepartment of Gastroenterology and Hepatology, University Hospital Heidelberg, Heidelberg, Germany.
Michael L SchilskySection of Digestive Diseases and Transplantation and Immunology, Department of Medicine and Surgery, Yale University School of Medicine, New Haven, CT, USA.
Institute of Psychiatry and Neurology · PLCharles University · CZHeidelberg University · DEJohns Hopkins Medicine · USMedical University of Vienna · ATPoznan University of Medical Sciences · PLUniversity of California, Davis · USYale University · US

Funding

Molecular Mechanisms of ATP-dependent Copper TransportersR01DK071865 · NIDDK · OREGON HEALTH & SCIENCE UNIVERSITY · PI SVETLANA LUTSENKO · 2005 to 2026
$7.9M
Epigenetic regulation of Wilson DiseaseR01DK104770 · NIDDK · UNIVERSITY OF CALIFORNIA AT DAVIS · PI MEDICI, VALENTINA · 2016 to 2020
$1.8M
Molecular Mechanisms of ATP-Dependent Copper TransportersR56DK071865 · NIDDK · JOHNS HOPKINS UNIVERSITY · PI LUTSENKO, SVETLANA · 2018 to 2018
$539k
NIDDK NIH HHS R01 DK071865NIDDK NIH HHS R01 DK104770NIDDK NIH HHS R56 DK071865
6 · The paper itself

Abstract

Wilson disease (WD) is a potentially treatable, inherited disorder of copper metabolism that is characterized by the pathological accumulation of copper. WD is caused by mutations in ATP7B, which encodes a transmembrane copper-transporting ATPase, leading to impaired copper homeostasis and copper overload in the liver, brain and other organs. The clinical course of WD can vary in the type and severity of symptoms, but progressive liver disease is a common feature. Patients can also present with neurological disorders and psychiatric symptoms. WD is diagnosed using diagnostic algorithms that incorporate clinical symptoms and signs, measures of copper metabolism and DNA analysis of ATP7B. Available treatments include chelation therapy and zinc salts, which reverse copper overload by different mechanisms. Additionally, liver transplantation is indicated in selected cases. New agents, such as tetrathiomolybdate salts, are currently being investigated in clinical trials, and genetic therapies are being tested in animal models. With early diagnosis and treatment, the prognosis is good; however, an important issue is diagnosing patients before the onset of serious symptoms. Advances in screening for WD may therefore bring earlier diagnosis and improvements for patients with WD.

Indexed as

Chelating AgentsCopperDietary SupplementsHepatolenticular DegenerationHumansMolybdenumQuality of LifeChelating AgentsCopperMolybdenumtetrathiomolybdate

Identifiers

PMID30190489
PMCPMC6416051
OpenAlexW3212080551

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.