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  • Title: Wilson's disease: copper unfettered.
    Author: Pfeil SA, Lynn DJ.
    Journal: J Clin Gastroenterol; 1999 Jul; 29(1):22-31. PubMed ID: 10405226.
    Abstract:
    Wilson's disease is a rare autosomal recessive inherited disorder of copper metabolism. Hepatic excretion of copper is impaired due to mutation of the gene for a copper-transporting adenosine triphosphatase, ATP7B. Copper accumulation in liver, brain, and other tissues may cause a wide spectrum of hepatic, neuropsychiatric, and other clinical manifestations. The diagnosis may be supported by measurement of serum ceruloplasmin, urinary copper excretion, and hepatic copper content as well as by detection of Kayser-Fleischer rings. Several treatments are available to increase urinary excretion and decrease intestinal absorption of copper.
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