Article
[Wilson disease].
Orvosi hetilap - 17 Oct 2004
Abonyi Margit, Folhoffer Anikó, Lakatos Péter László
Abstract excerpt
Wilson disease is an autosomal, recessive inherited disorder of copper metabolism, characterized by the accumulation of copper in the body due to defective biliary copper excretion of hepatocytes. Recently, novel components involved in copper metabolism, Wilson disease protein (ATP7B) and copper chaperones, have been identified. It has been demonstrated that ATP7B functions in copper secretion into the plasma,...
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