ReviewHandbook of clinical neurology2017
The genetics 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 81 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
81 citing papers in PubMed, 1 synthesis or guideline pooled it, 141 citations in OpenAlex.
- Brain microstructural abnormalities in patients with Wilson's disease: A systematic review of diffusion tenor imaging studies.Brain imaging and behavior · 2022Pooled it
- Balancing cellular copper levels via the post-translational regulation of copper transport.Biometals : an international journal on the role of metal ions in biology, biochemistry, and medicine · 2026Review
- The utility of whole exome sequencing in diagnosing Wilson disease: A case report.JPGN reports · 2026Article
- Prognosis of pediatric hepatic Wilson disease with ATP7B loss of function variants.Clinical and experimental pediatrics · 2026Article
- Labile Bound Copper (LBC) and Total Serum Copper Concentrations in Newborns and Infants.Biological trace element research · 2026Article
- The ATP7B c.3316 G > A variant is associated with mild subphenotype in Wilson disease: a single-center cohort study.Orphanet journal of rare diseases · 2026Article
- The pathogenesis of liver fibrosis in Wilson's disease: hepatocyte injury and regulation mediated by copper metabolism dysregulation.Biometals : an international journal on the role of metal ions in biology, biochemistry, and medicine · 2026Review
- Copper Homeostasis and Cuproptosis in Neurological Disorders.Drug design, development and therapy · 2026Review
- Novel and less invasive biomarker assays to measure liver ATP7B in Wilson disease patients.Scientific reports · 2025Article
- Clinical characteristics and genetic causes of unexplained pediatric liver disease.World journal of hepatology · 2025Article
- Evaluation of the Relationship Between Neurologic Manifestations and Genetic Mutations in Wilson's Disease with Next-Generation Sequencing.Diagnostics (Basel, Switzerland) · 2025Article
- Metals in the human liver: An underappreciated risk factor of hepatic insulin resistance and associated pathophysiology.Environmental pollution (Barking, Essex : 1987) · 2025Review
- Molecular Characterization of Wilson's Disease in Liver Transplant Patients: A Five-Year Single-Center Experience in Iran.Diagnostics (Basel, Switzerland) · 2025Article
- Clinical Determinants and Prognostic Impact of Delayed Diagnosis in Wilson's Disease.Diagnostics (Basel, Switzerland) · 2025Article
- Practical and Multidisciplinary Review on Wilson Disease: The Portuguese Perspective.GE Portuguese journal of gastroenterology · 2025Review
- Effect of primary copper metabolism disturbance on elemental, protein, and lipid composition of the organs in Jackson toxic milk mouse.Biometals : an international journal on the role of metal ions in biology, biochemistry, and medicine · 2025Article
- The Genomic Landscape of Wilson Disease in a Pan India Disease Cohort and Population-Scale Data.Movement disorders clinical practice · 2025Article
- Spectrum and classification ofSaudi medical journal · 2025Article
- Functional Screen of Wilson Disease ATP7B Variants Reveals Residual Transport Activities.Human mutation · 2025Article
- Proximal myopathy in an untreated case of Wilson's disease - A case report.Hepatology forum · 2025Article
21 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 1 country.
Funding
Abstract
Wilson disease (WD) is an autosomal-recessive disorder of hepatocellular copper deposition caused by pathogenic variants in the copper-transporting gene, ATP7B. Early detection and treatment are critical to prevent lifelong neuropsychiatric, hepatic, and systemic disabilities. Due to the marked heterogeneity in age of onset and clinical presentation, the diagnosis of Wilson disease remains challenging to physicians today. Direct sequencing of the ATP7B gene is the most sensitive and widely used confirmatory testing method, and concurrent biochemical testing improves diagnostic accuracy. More than 600 pathogenic variants in ATP7B have been identified, with single-nucleotide missense and nonsense mutations being the most common, followed by insertions/deletions, and, rarely, splice site mutations. The prevalence of Wilson disease varies by geographic region, with higher frequency of certain mutations occurring in specific ethnic groups. Wilson disease has poor genotype-phenotype correlation, although a few possible modifiers have been proposed. Improving molecular genetic studies continue to advance our understanding of the pathogenesis, diagnosis, and screening for Wilson disease.
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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.