ReviewThe application of clinical genetics2017
Update on the clinical management of Wilson's disease.
Review in The application of clinical genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers, 2 of them syntheses that pooled it.
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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
38 citing papers in PubMed, 2 syntheses or guidelines pooled it, 79 citations in OpenAlex.
- Treatment of liver fibrosis in hepatolenticular degeneration with traditional Chinese medicine: systematic review of meta-analysis, network pharmacology and molecular dynamics simulation.Frontiers in medicine · 2023Pooled it
- Chinese Herbal Medicine for Wilson's Disease: A Systematic Review and Meta-Analysis.Frontiers in pharmacology · 2019Pooled it
- 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 · 2026Review
- An Initial Assessment of Rabbit Cornea as a Biomarker of Trace-Element Load in Commercial Animal Production.Metabolites · 2026Article
- Traditional Chinese medicine for intractable and rare diseases: Research progress and future strategies.Intractable & rare diseases research · 2025Review
- Natural Copper Ion Scavenger: Investigation of the Hepatoprotective Effects of Green Tea Extract in Toxic-Milk Mice with Wilson's Disease Model.Foods (Basel, Switzerland) · 2025Article
- Supranuclear Vertical Gaze Palsy in Movement Disorders.Neuro-ophthalmology (Aeolus Press) · 2025Review
- Role of Botulinum Toxin in Treatment of Secondary Dystonia: A Case Series and Overview of Literature.Toxins · 2024Review
- [Analysis of clinical and genetic characteristics of the severe liver disease phenotype in patients with hepatolenticular degeneration].Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology · 2024Article
- Pearls & Oy-sters:Neurology · 2024Article
- Article
- Wilson disease in a 19-year-old female.CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne · 2024Article
- D-Penicillamine-Induced Stevens-Johnson Syndrome in a Patient with Gold Cyanide Intoxication: A Case Report.Clinical, cosmetic and investigational dermatology · 2024Article
- Unexplained Chronic Liver Disease and Hemolytic Anemia in a Young Girl: A Case of Wilson's Disease.Cureus · 2023Article
- Neurological-Type Wilson Disease: Epidemiology, Clinical Manifestations, Diagnosis, and Management.Cureus · 2023Review
- Direct targeted therapy for MLL-fusion-driven high-risk acute leukaemias.Clinical and translational medicine · 2022Article
- Practical insights into chronic management of hepatic Wilson's disease.World journal of clinical cases · 2022Review
- Protective Mechanism of Gandou Decoction in a Copper-Laden Hepatolenticular Degeneration Model:Frontiers in pharmacology · 2022Article
- A rare giant intracranial arachnoid cyst confused the diagnosis and treatment of Wilson disease.Translational neuroscience · 2022Article
- Copper deposition in Wilson's disease causes male fertility decline by impairing reproductive hormone release through inducing apoptosis and inhibiting ERK signal in hypothalamic-pituitary of mice.Frontiers in endocrinology · 2022Article
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Wilson's disease (WD), albeit relatively rare, is an important genetic metabolic disease because of highly effective therapies that can be lifesaving. It is a great imitator and requires a high index of suspicion for correct and timely diagnosis. Neurologic, psychiatric and hepatologic problems in WD are very nonspecific, and we discuss the most common clinical phenotypes. The diagnosis remains laboratory based, and here we review the most important challenges and pitfalls in laboratory evaluation of WD, including the emerging role of genetic testing in WD diagnosis. WD is a monogenic disorder but has very high allelic heterogeneity with >500 disease-causing mutations identified, and new insights into phenotype-genotype correlations are also reviewed. The gold standard of therapy is chelation of excessive copper, but many unmet needs exist because of possible clinical deterioration in treated patients and potential adverse effects associated with currently available chelating medications. We also review the most promising novel therapeutic approaches, including chelators targeting specific cell types, cell transplantation and gene therapy.
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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.