Ontology highlight
ABSTRACT: Background
Wilson's disease (WD) is an autosomal recessive genetic disorder due to a mutation of the ATP7B gene, resulting in impaired hepatic copper excretion and accumulation in various tissues. Lifelong decoppering treatments are the keystone of the treatment. These treatments can prevent, stabilize, or reverse the symptoms making WD a chronic disease. Quality of life (QoL) is one of the best outcome measures of any therapeutic intervention in chronic diseases but has not been evaluated in large cohorts of WD patients.Method
To better evaluate the QoL in WD and the correlation with different clinical or demographic factors we have performed a prospective cross-sectional study.Results
Two hundred fifty-seven patients (53.3% men, mean age of 39.3 years and median d
SUBMITTER: Chevalier K
PROVIDER: S-EPMC10308610 | biostudies-literature | 2023 Jun
REPOSITORIES: biostudies-literature