Genetic screening of Fabry patients with EcoTILLING and HRM technology

by Iemolo Francesco, Francofonte Daniele, Zizzo Carmela, Albeggiani Giuseppe, Nuzzo Domenico, Bono Caterina, Sanzaro Enzo, Duro Giovanni
Published 2011-09-01

A classical phenotype of Anderson-Fabry disease in a female patient with intronic mutations of the GLA gene: a case report

by Pisani Antonio, Imbriaco Massimo, Zizzo Carmela, Albeggiani Giuseppe, Colomba Paolo, Alessandro Riccardo, Iemolo Francesco, Duro Giovanni
Published 2012-06-01

Cognitive impairment and Fabry Disease: a case report with mutation S126G

by Razza, Grazia, Spadaro, Daniela, Giordano, Antonello, Scalia, Simone, Colomba, Paolo, Zizzo, Carmela, Duro, Giovanni, Iemolo, Francesco
Published 2016-11-01