Article
High prevalence of the His63Asp HFE mutation in Italian patients with porphyria cutanea tarda.
Hepatology (Baltimore, Md.) - 1 Jan 1998
Sampietro M, Piperno A, Lupica L, Arosio C, Vergani A, Corbetta N, Malosio I, Mattioli M, Fracanzani A L, Cappellini M D, Fiorelli G, Fargion S
Abstract excerpt
Sporadic porphyria cutanea tarda (PCT) is caused by a reduced activity of uroporphyrinogen decarboxylase (URO-D) in the liver. Mild to moderate iron overload is common in PCT, as iron is one of the factors which trigger the clinical manifestations of the disease through the inactivation of URO-D....
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