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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...
Autores principales: | Rossetti, María V, Granata, Bárbara X, Giudice, Jimena, Parera, Victoria E, Batlle, Alcira |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2008
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2467414/ https://www.ncbi.nlm.nih.gov/pubmed/18570668 http://dx.doi.org/10.1186/1471-2350-9-54 |
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