ReviewJournal of clinical and experimental hepatology2013
A review and current perspective on Wilson disease.
Review in Journal of clinical and experimental hepatology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers, 2 of them syntheses that pooled it.
What it found
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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.
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.
Who cites it
46 citing papers in PubMed, 2 syntheses or guidelines pooled it, 121 citations in OpenAlex.
- Clinical and Molecular Spectrum of Wilson Disease in the Arab World: A Systematic Review.Biochemical genetics · 2025Pooled it
- Chinese Herbal Medicine for Wilson's Disease: A Systematic Review and Meta-Analysis.Frontiers in pharmacology · 2019Pooled it
- Diagnostic challenges and mimicking disorders of Wilson's Disease: A comprehensive review.Caspian journal of internal medicine · 2026Review
- BPEI-Based N-Doped Carbon Dots with Sensitive and Selective CuMicromachines · 2025Article
- An adolescent with newly diagnosed Wilson disease having underlying type 1 diabetes: A previously unreported combination.Journal of family medicine and primary care · 2025Article
- N,N'-bis(2-mercaptoethyl)isophthalamide (NBMI) as a novel chelator for Wilson's disease.Free radical biology & medicine · 2025Article
- Application of Anterior Segment Optical Coherence Tomography in Detecting Kayser-Fleischer Rings in Wilson Disease.Cornea · 2025Article
- Chinese Multidisciplinary Expert Consensus on Orphan/Anticopper Drugs and Other Non-drug Management of Hepatolenticular Degeneration.Current neuropharmacology · 2025Review
- Minimal Criteria to Screen for Wilson Disease: A Delphi Consensus in the United States.International journal of hepatology · 2025Article
- Pregnancy With Wilson's Disease.Maternal-fetal medicine (Wolters Kluwer Health, Inc.) · 2024Article
- Copper Serum Levels in the Hemodialysis Patient Population.Medicina (Kaunas, Lithuania) · 2024Review
- Wilson's Disease with Acute Hepatic Onset: How to Diagnose and Treat It.Children (Basel, Switzerland) · 2024Review
- Usefulness of the Leipzig Score in the Diagnosis of Wilson's Disease - A Diagnostically Challenging Case Report.International medical case reports journal · 2024Article
- Monitoring of Copper in Wilson Disease.Diagnostics (Basel, Switzerland) · 2023Review
- Generalized Dystonia as Presenting Feature of Wilson Disease: A Case Report.Global pediatric health · 2023Article
- Mutational analysis of exon 8 and exon 14 of ATP7B gene in Bangladeshi children with Wilson disease.Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology · 2022Article
- Copper binding leads to increased dynamics in the regulatory N-terminal domain of full-length human copper transporter ATP7B.PLoS computational biology · 2022Article
- Mutation spectrum ofMolecular genetics and metabolism reports · 2022Article
- A caged imidazopyrazinone for selective bioluminescence detection of labile extracellular copper(ii).Chemical science · 2022Article
- Contraceptive use in women with inherited metabolic disorders: a retrospective study and literature review.Orphanet journal of rare diseases · 2022Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Wilson disease is a rare, inherited autosomal recessive disease of copper metabolism and may be more common where consanguinity is prevalent. Much has been known about the disease after it was first described by Kinnier Wilson as 'progressive lenticular degeneration in 1912. Over 500 mutations of the ATP7B gene has been identified with no clear genotype to phenotype correlation. Loss of ATP7B function leads various grades of reduced biliary excretion of copper and reduced incorporation of copper into ceruloplasmin; accumulation and toxicity of copper in the liver, brain and other tissues results in liver toxicity and other myriad manifestations of the disease. The clinical features may vary from asymptomatic state to chronic liver disease, acute liver failure, neuropsychiatric manifestations and hemolytic anemia. Diagnosis is based on the combination of clinical sign's, biochemical features, histologic findings and mutation analysis of ATP7B gene. Subtle geographical differences exist with a disproportionate proportion of children presenting with acute liver failure. A high index of suspicion is needed for an early diagnosis. Ratios of biochemical indices for early diagnosis need validation across geographical regions and may not be particularly applicable in children. Better biomarkers or the need for tests for early detection of ALF persists. Drugs used in the treatment of Wilson disease include copper chelating agents such as d-Penicillamine, trientine and zinc salt. Untreated Wilson disease uniformly leads to death from liver disease or severe neurological disability. Early recognition and treatment has excellent prognosis. Liver transplantation is indicated in acute liver failure and end stage liver disease. Family screening in order to detect the disorder in the first-degree relatives is warranted. This review provides an overview of different aspects of Wilson disease including geographical differences in presentations and clinical management and the limitations of currently available tests.
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What OpenQuestion holds
Registered trials
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.