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  • Title: [Wilson's disease in paediatric age: diagnosis and treatment. Recent advances].
    Author: Palumbo E.
    Journal: Recenti Prog Med; 2008 Nov; 99(11):561-4. PubMed ID: 19209540.
    Abstract:
    Wilson's disease is an autosomal-recessive disorder caused by mutation in the ATP7B gene, with resultant impairment of biliary excretion of copper. Subsequent copper accumulation, first in the liver but ultimately in the brain and other tissues, produces clinical manifestations that may include hepatic, neurological, psychiatric, ophthalmological, and other derangements. This article discusses the recent progress in diagnosis and treatment of this disease in paediatric age.
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