Article
Clinical, biochemical and genetic characteristics of Variegate Porphyria in Italy.
Cellular and molecular biology (Noisy-le-Grand, France) - 1 Jul 2009
Di Pierro E, Ventura P, Brancaleoni V, Moriondo V, Marchini S, Tavazzi D, Nascimbeni F, Ferrari M C, Rocchi E, Cappellini M D
Abstract excerpt
Variegate Porphyria (VP) is an autosomal dominant disorder found worldwide but is rare in Italy. In this study we provide an overview of clinical, biochemical and genetic background of 33 Italian VP patients diagnosed in the last fifteen years. About 70% of patients had experienced clinical symptoms: 43.4% had photosensivity, 8.7% acute attacks and 47.8% both. Among the 33 patients, 14 different mutations were...
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