Genetic and biochemical studies in Argentinean patients with variegate porphyria |
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| Authors: | María V Rossetti Bárbara X Granata Jimena Giudice Victoria E Parera Alcira Batlle |
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| Affiliation: | 1.Centro de Investigaciones sobre Porfirinas y Porfirias,Hospital de Clínicas, CONICET,Buenos Aires,Argentina;2.Facultad de Ciencias Exactas y Naturales,University of Buenos Aires,Argentina |
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| Abstract: | Background A partial deficiency in Protoporphyrinogen oxidase (PPOX) produces the mixed disorder Variegate Porphyria (VP), the second acute porphyria more frequent in Argentina. Identification of patients with an overt VP is absolutely important because treatment depends on an accurate diagnosis but more critical is the identification of asymptomatic relatives to avoid acute attacks which may progress to death. |
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