Browsing by Author "Aguilera, Paula"

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  • Pozo Mendoza, Óscar J., 1975-; Marcos del Águila, Josep, 1971-; Fabregat Rossell, Andreu, 1986-; Ventura Alemany, Rosa; Casals, Gregori; Aguilera, Paula; Segura Noguera, Jordi; To Figueras, Jordi (BioMed Central, 2014)
    Background: Acute Intermittent Porphyria (AIP) is a rare disease that results from a deficiency of hydroxymethylbilane synthase, the third enzyme of the heme biosynthetic pathway. AIP carriers are at risk of presenting ...
  • Gomez-Gomez, Àlex; Aguilera, Paula; Langohr, Klaus; Casals, Gregori; Pavon, Cristina; Marcos del Águila, Josep, 1971-; To-Figueras, Jordi; Pozo Mendoza, Óscar J., 1975- (MDPI, 2022)
    Acute intermittent porphyria (AIP) is an inherited rare hepatic disorder due to mutations within the hydroxymethylbilane gene. AIP patients with active disease overproduce aminolevulinic acid (ALA) and porphobilinogen (PBG) ...
  • Pérez-Ferriols, Amparo; Barnadas, Maria; Gardeazábal, Jesús; Argila, Diego de; Carrascosa Carrillo, José Manuel; Aguilera, Paula; Giménez Arnau, Anna Maria; Rodríguez-Granados, Teresa; Gálvez, María Victoria de; Aguilera, José (Elsevier, 2017)
    Antecedentes: La urticaria solar es una urticaria crónica inducible física clasificada también como fotodermatosis idiopática. El objetivo de este trabajo es definir las características fenotípicas y valorar la incidencia ...

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