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3217 search results for:

Wilson's Disease 

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  1. 10-05-2024 | Wilson's Disease | Online First

    Clinical profile of adult and pediatric patients with hepatic Wilson’s disease

    Wilson disease (WD) is autosomal recessively inherited disorder of copper metabolism due to mutations of the ATPase copper transporting beta (ATP7B) gene and mainly affects the liver and brain as well as other organs [ 1 ]. WD occurs worldwide with …

  2. Open Access 01-12-2024 | Wilson's Disease | OriginalPaper

    Systemic lupus erythematosus combined with Wilson’s disease: a case report and literature review

    Wilson’s disease (WD) is a rare autosomal-recessive disorder characterized by defective biliary excretion of copper, with a reported prevalence of 1:30,000–50,000 [ 1 ]. This defect leads to the progressive accumulation of copper in various organs …

  3. Open Access 04-04-2024 | Wilson's Disease | OriginalPaper

    Exploring the Content Validity of the Unified Wilson Disease Rating Scale: Insights from Qualitative Research

    Wilson disease (WD) is an inherited autosomal recessive metabolic disorder of impaired copper transport. WD causes an accumulation of copper in multiple organs, namely the liver and brain, resulting in a range of neurological, psychiatric, and …

  4. Open Access 01-12-2024 | Wilson's Disease | OriginalPaper

    Adherence to medical treatment for Wilson’s disease in children and adolescents: a cohort study from Turkey

    Wilson’s disease (WD) is an autosomal recessively inherited disorder of copper utilization in hepatocytes caused by mutations in the ATP7B gene, with a reported prevalence of 1:30,000–50,000 [ 1 ]. Defective utilization of copper leads to hepatic …

  5. 05-12-2023 | Wilson's Disease | OriginalPaper

    The volume and structural covariance network of thalamic nuclei in patients with Wilson’s disease: an investigation of the association with neurological impairment

    Wilson’s disease (WD) is an autosomal recessive disease caused by a mutation in the ATP7B gene. Liver and brain injury are commonly injured organs caused by disorders of copper metabolism [ 1 ]. Liver injury is the presenting symptom in 40% to 60% …

  6. 31-01-2024 | Wilson's Disease | Online First

    Correlation between neuroimaging, neurological phenotype, and functional outcomes in Wilson’s disease

    Wilson’s disease (WD) is an autosomal recessive disorder of copper metabolism in which ATP7B mutations lead to impaired biliary excretion and subsequent accumulation of copper in multiple organ systems [ 1 ]. Although the phenotype is highly …

  7. Open Access 01-12-2024 | Lipoma | OriginalPaper

    A case of Wilson’s disease combined with intracranial lipoma and dysplasia of the corpus callosum with review of the literature

    Wilson’s disease (WD) is a rare autosomal recessive disorder with a global prevalence of approximately 1:30,000–1:50,000 [ 1 ]. It is caused by a mutation in the ATP7B gene in hepatocytes, leading to inactivation of the ATP7B transporter protein …

  8. 06-07-2023 | Wilson's Disease | OriginalPaper

    Distal renal tubular acidosis as presenting manifestation of Wilson disease in a 11-year-old girl

    A 11-year-old girl was referred to the pediatric nephrology services of our hospital for evaluation of vitamin-D-refractory rickets. She was born to second-degree consanguineous parents. On examination, she had wrist widening and bilateral genu …

  9. 24-11-2023 | Wilson's Disease | OriginalPaper

    Network pharmacology-based approach to understand the effect and mechanism of chrysophanol against cognitive impairment in Wilson disease

    Wilson disease (WD) is a rare hereditary copper metabolism disorder, wherein cognitive impairment is a common clinical symptom. Chrysophanol (CHR) is an active compound with neuroprotective effects. The study aims to investigate the …

  10. Open Access 01-12-2023 | Wilson's Disease | OriginalPaper

    Metabolomic profiling of Wilson disease, an inherited disorder of copper metabolism, and diseases with similar symptoms but normal copper metabolism

    Wilson’s disease (WD), also named hepatolenticular degeneration, is a rare inherited disorder that leads to copper accumulation [ 1 ]. This disease is caused by homozygous mutations or compound heterozygous mutations (two different mutant alleles) …

  11. 05-04-2023 | Dystonia | OriginalPaper

    Long-term outcome of patients with neurological form of Wilson’s disease compliant to the de-coppering treatment

    Wilson’s disease (WD) is an inherited, autosomal recessive disorder of copper metabolism caused by a mutation in ATP7B gene. Clinical presentation is caused by an abnormal copper accumulation in the central nervous system, liver, and other organs.

  12. 16-09-2022 | Wilson's Disease | OriginalPaper

    Genomic Variations in ATP7B Gene in Indian Patients with Wilson Disease

    Wilson Disease (WD) (OMIM# 277900) is an autosomal recessive disorder associated with defective biliary excretion of copper, which is caused by mutations in the ATP7B gene. These mutations result in impaired function of the ATP7B protein, leading …

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