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 ...
