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Genetic and biochemical studies in Argentinean patients with variegate porphyria

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 bu...

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Autors principals: Rossetti, María V, Granata, Bárbara X, Giudice, Jimena, Parera, Victoria E, Batlle, Alcira
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2008
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2467414/
https://ncbi.nlm.nih.gov/pubmed/18570668
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-9-54
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