ReviewHandbook of clinical neurology2017
Diagnosis of Wilson disease.
Review in Handbook of clinical neurology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers.
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
41 citing papers in PubMed, 88 citations in OpenAlex.
- A comprehensive literature review of Wilson Disease in Africa.eNeurologicalSci · 2026Review
- Pediatric Wilson disease with early psychiatric manifestations: a case report.Journal of medical case reports · 2026Article
- Wilson's Disease with Autoimmune Hepatitis Manifestation in a Pediatric Patient: A Case Report and Literature Review.Journal of clinical medicine · 2025Article
- Re-examining the Diagnostic Criteria for Wilson's Disease: A Case Report and Literature Review.Cureus · 2025Article
- Biomarker Discovery in Wilson's Disease-A Path Toward Improved Diagnosis and Management: A Comprehensive Review.Molecular neurobiology · 2025Review
- Evaluation of the Relationship Between Neurologic Manifestations and Genetic Mutations in Wilson's Disease with Next-Generation Sequencing.Diagnostics (Basel, Switzerland) · 2025Article
- Wilson's disease with psychiatric symptoms: a case report.Journal of medical case reports · 2025Article
- Isolated neurological symptoms of Wilson's disease manifesting as focal epileptic seizures without hepatic involvement: Insights from a case report.The Journal of international medical research · 2025Article
- Practical and Multidisciplinary Review on Wilson Disease: The Portuguese Perspective.GE Portuguese journal of gastroenterology · 2025Review
- Case report: Co-occurrence of Wilson's and Alexander's diseases revealed by genetic analysis.Frontiers in neurology · 2025Article
- Seven decades of clinical experience with Wilson's disease: Report from the national reference centre in Poland.European journal of neurology · 2024Article
- Relative exchangeable copper, a high-quality biomarker for differentiation of Traditional Chinese Medicine syndrome in Wilson's disease.Journal of traditional Chinese medicine = Chung i tsa chih ying wen pan · 2024Article
- Epidemiology of Wilson disease in Germany - real-world insights from a claims data study.Orphanet journal of rare diseases · 2024Article
- Brain Magnetic Resonance Imaging in Wilson's Disease-Significance and Practical Aspects-A Narrative Review.Brain sciences · 2024Review
- Correlation between neuroimaging, neurological phenotype, and functional outcomes in Wilson's disease.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2024Article
- Article
- Usefulness of the Leipzig Score in the Diagnosis of Wilson's Disease - A Diagnostically Challenging Case Report.International medical case reports journal · 2024Article
- Evaluation of vitamin BBMJ open gastroenterology · 2023Article
- Wilson Disease: Uncommon but Not to Be Forgotten.Cureus · 2023Article
- Neurological Wilson's Disease Signs-Hepatic Encephalopathy or Copper Toxicosis?Diagnostics (Basel, Switzerland) · 2023Review
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
Clinical presentation of Wilson disease can vary widely; therefore diagnosis is not always straightforward. Wilson disease is not just a disease of children and young adults, but may present at any age. The key features of Wilson disease are liver disease and cirrhosis, neuropsychiatric disturbances, Kayser-Fleischer rings, and acute episodes of hemolysis, often in association with acute liver failure. Diagnosis is particularly difficult in children and in adults presenting with active liver disease. None of the available laboratory tests is perfect and may not be specific for Wilson disease. A detailed neurologic examination is required for all cases. Neuroimaging and electrophysiologic methods are helpful. To overcome the diagnostic challenge, several clinical signs (Kayser-Fleischer rings, neurologic symptoms) and laboratory features (copper in serum, urine, liver; serum ceruloplasmin; genetic testing) are scored 0 (absent) to 2 (present) and the Leipzig score is calculated. If the score is ≥4, the diagnosis of Wilson disease is very likely. For asymptomatic siblings of index patients, mutation analysis is the most reliable approach.
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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.