Health impact of acute intermittent porphyria in latent and non-recurrent attacks patients

by Juan Buendía-Martínez, María Barreda-Sánchez, Lidya Rodríguez-Peña, María Juliana Ballesta-Martínez, Vanesa López-González, María José Sánchez-Soler, Ana Teresa Serrano-Antón, María Elena Pérez-Tomás, Remedios Gil-Ferrer, Francisco Avilés-Plaza, Guillermo Glover-López, Carmen Carazo-Díaz, Encarna Guillén-Navarro
Published 2021-02-01

High penetrance of acute intermittent porphyria in a Spanish founder mutation population and CYP2D6 genotype as a susceptibility factor

by María Barreda-Sánchez, Juan Buendía-Martínez, Guillermo Glover-López, Carmen Carazo-Díaz, María Juliana Ballesta-Martínez, Vanesa López-González, María José Sánchez-Soler, Lidya Rodriguez-Peña, Ana Teresa Serrano-Antón, Remedios Gil-Ferrer, Maria del Carmen Martínez-Romero, Pablo Carbonell-Meseguer, Encarna Guillén-Navarro
Published 2019-02-01

EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population

by María Carmen Martínez-Romero, María Juliana Ballesta-Martínez, Vanesa López-González, María José Sánchez-Soler, Ana Teresa Serrano-Antón, María Barreda-Sánchez, Lidya Rodriguez-Peña, María Teresa Martínez-Menchon, José Frías-Iniesta, Paloma Sánchez-Pedreño, Pablo Carbonell-Meseguer, Guillermo Glover-López, Encarna Guillén-Navarro, GIEDE (Spanish multidisciplinary research group for ectodermal dysplasia)
Published 2019-12-01