SynthesisJournal of clinical laboratory analysis2022
Biochemical testing for the diagnosis of Wilson's disease: A systematic review.
Synthesis in Journal of clinical laboratory analysis, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis 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
11 citing papers in PubMed, 1 synthesis or guideline pooled it, 16 citations in OpenAlex.
- Biochemical testing for the diagnosis of Wilson's disease: A systematic review.Journal of clinical laboratory analysis · 2022Pooled it
- When Speech Signals Wilson Disease: A Case Report.Cureus · 2026Article
- Referral-spectrum Effect in Hypercupriuric Referrals for Suspected Wilson Disease: Diagnostic Implications for Ceruloplasmin and 24-hour Urinary Copper Excretion.Journal of clinical and translational hepatology · 2026Article
- Identification of age-specific urinary metabolic biomarkers in Wilson disease using machine learning: a comparative study of ensemble tree models.Open medicine (Warsaw, Poland) · 2026Article
- Evaluation of the Relationship Between Neurologic Manifestations and Genetic Mutations in Wilson's Disease with Next-Generation Sequencing.Diagnostics (Basel, Switzerland) · 2025Article
- Current Management of Neurological Wilson's Disease.Tremor and other hyperkinetic movements (New York, N.Y.) · 2025Review
- The physiological and pathophysiological roles of copper in the nervous system.The European journal of neuroscience · 2024Review
- Review
- Monitoring of Copper in Wilson Disease.Diagnostics (Basel, Switzerland) · 2023Review
- Wilson's Disease-Genetic Puzzles with Diagnostic Implications.Diagnostics (Basel, Switzerland) · 2023Review
- A rare concomitance of Wilson's disease and systemic lupus erythematosus in a teenage girl: a case report and literature review.Frontiers in pediatrics · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 7 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundWilson's disease (WD) is a rare inherited disorder that leads to copper accumulation in the liver, brain, and other organs. WD is prevalent worldwide, with an occurrence of 1 per 30,000 live births. Currently, there is no gold standard diagnostic test for WD. The objective of this systematic review is to determine the diagnostic accuracy for WD of three biochemical tests, namely hepatic copper, 24-hour urinary copper, and ceruloplasmin using the Leipzig criteria.
methodsAdhering to PRISMA guidelines, databases including PubMed/MEDLINE, CINAHL Plus, Web of Science, and Cochrane were searched. Studies that comprised of confirmed or suspected WD along with normal populations were included with adult and pediatric group. The sensitivity, specificity, negative predictive value and positive predictive value were computed using RevMan 5.4.
resultsNine studies were included. The best practice evidence for 24-hour urinary copper test ranged from a cutoff value of 0.64-1.6 μmol/24 h (N = 268; sensitivity = 75.6%, specificity = 98.3%). Hepatic copper test was optimally cutoff based on the ROC curve analysis at 1.2 μmol/g yielding a power of 96.4% sensitivity and 95.4% specificity (N = 1,150); however, the tried and tested 4 μmol/g cutoff, with 99.4% sensitivity and 96.1% specificity, is more widely accepted. The ceruloplasmin test cutoff value was found to be ranging from 0.14 to 0.2 g/L (N = 4,281; sensitivity = 77.1%-99%, specificity = 55.9%-82.8%).
conclusionThis paper provides a large-scale analysis of current evidence pertaining to the biochemical diagnosis of WD employing the Leipzig criteria. The laboratory values are typically based on specific subgroups based on age, ethnicity, and clinical subgroups. The findings of this systematic review must be used with caution, given the over- or under-estimation of the index tests.
Indexed as
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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.