ReviewSaudi journal of gastroenterology : official journal of the Saudi Gastroenterology Association
Wilson disease in children and young adults - State of the art.
Review in Saudi journal of gastroenterology : official journal of the Saudi Gastroenterology Association. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 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
24 citing papers in PubMed, 1 synthesis or guideline pooled it, 45 citations in OpenAlex.
- Clinical and Molecular Spectrum of Wilson Disease in the Arab World: A Systematic Review.Biochemical genetics · 2025Pooled it
- The utility of whole exome sequencing in diagnosing Wilson disease: A case report.JPGN reports · 2026Article
- A new Easily Synthesized Coumarin-based Chemodosimeter for Fluorescent Imaging of Copper Ions in Living Cells.Journal of fluorescence · 2026Article
- Article
- Global burden of Wilson disease: a comprehensive evidence synthesis.Orphanet journal of rare diseases · 2026Article
- Rare liver diseases - Etiology, diagnosis and management: A review.Biomolecules & biomedicine · 2025Review
- Molecular Characterization of Wilson's Disease in Liver Transplant Patients: A Five-Year Single-Center Experience in Iran.Diagnostics (Basel, Switzerland) · 2025Article
- Wilson's Disease in Oman: A National Cohort Study of Clinical Spectrum, Diagnostic Delay, and Long-Term Outcomes.Clinics and practice · 2025Article
- A Case of Wilson's Disease With Early Neuropsychiatric and Late Hepatic Manifestations.Cureus · 2025Article
- Clinical Characteristics, Treatment Effects and Risk Factors of Liver Cirrhosis in Patients with Wilson's Disease Hepatic Type.Journal of clinical and translational hepatology · 2025Article
- Cuproptosis Cell Death Molecular Events and Pathways to Liver Disease.Journal of inflammation research · 2025Review
- The Importance of Genetic Testing: A Case Report of Wilson's Disease in Two Siblings of a Three-Sibling Family.Cureus · 2025Article
- A Rare Case of Untreated Wilson's Disease in a Teen With Lethal Exit: Morphological Findings From an Autopsy Study.Cureus · 2024Article
- Pediatric Perspectives on Liver Cirrhosis: Unravelling Clinical Patterns and Therapeutic Challenges.Journal of clinical medicine · 2024Review
- Copper, Iron, Cadmium, and Arsenic, All Generated in the Universe: Elucidating Their Environmental Impact Risk on Human Health Including Clinical Liver Injury.International journal of molecular sciences · 2024Review
- Obesity as a Confounding Factor in the Diagnosis of Wilson's Disease: Case Report of Two Siblings with the Same Genotype but Different Clinical Courses.Current issues in molecular biology · 2024Article
- The Role of Copper Overload in Modulating Neuropsychiatric Symptoms.International journal of molecular sciences · 2024Review
- Wilson Disease: Copper-Mediated Cuproptosis, Iron-Related Ferroptosis, and Clinical Highlights, with Comprehensive and Critical Analysis Update.International journal of molecular sciences · 2024Review
- Systemic lupus erythematosus combined with Wilson's disease: a case report and literature review.BMC pediatrics · 2024Review
- Adherence to medical treatment for Wilson's disease in children and adolescents: a cohort study from Turkey.Orphanet journal of rare diseases · 2024Article
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 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Wilson disease (WD) is an autosomal recessive disorder caused by mutations of the ATP7B gene, with a reported prevalence of 1:30,000-50,000. ATP7B encodes an enzyme called transmembrane copper-transporting ATPase, which is essential for copper incorporation into ceruloplasmin and for copper excretion into the bile. A lack or dysfunction of this enzyme results in a progressive accumulation of copper in several organs, especially in the liver, the nervous system, corneas, kidneys, and heart. Children with WD can present with asymptomatic liver disease, cirrhosis, or acute liver failure, with or without neurological and psychiatric symptoms. Approximately 20%-30% of WD patients present with ALF, while most of the other patients have chronic progressive hepatitis or cirrhosis if untreated. Although genetic testing has become a more important diagnostic tool for WD, the diagnosis remains based on both clinical features and laboratory investigations. The aims of treatment are to reduce copper levels and prevent its accumulation in the liver and other organs, especially in the central nervous system. Liver transplantation in WD is a life-saving option for patients presenting with liver failure and encephalopathy. For WD patients treated with chelating agents, adherence to the therapy is essential for long-term success. In this review, we also address specific issues in young adults as compared to children.
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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.