Ontology highlight
ABSTRACT:
SUBMITTER: Duro G
PROVIDER: S-EPMC6320967 | biostudies-literature | 2018 Nov
REPOSITORIES: biostudies-literature
Duro Giovanni G Zizzo Carmela C Cammarata Giuseppe G Burlina Alessandro A Burlina Alberto A Polo Giulia G Scalia Simone S Oliveri Roberta R Sciarrino Serafina S Francofonte Daniele D Alessandro Riccardo R Pisani Antonio A Palladino Giuseppe G Napoletano Rosa R Tenuta Maurizio M Masarone Daniele D Limongelli Giuseppe G Riccio Eleonora E Frustaci Andrea A Chimenti Cristina C Ferri Claudio C Pieruzzi Federico F Pieroni Maurizio M Spada Marco M Castana Cinzia C Caserta Marina M Monte Ines I Rodolico Margherita Stefania MS Feriozzi Sandro S Battaglia Yuri Y Amico Luisa L Losi Maria Angela MA Autore Camillo C Lombardi Marco M Zoccali Carmine C Testa Alessandra A Postorino Maurizio M Mignani Renzo R Zachara Elisabetta E Giordano Antonello A Colomba Paolo P
International journal of molecular sciences 20181123 12
Anderson-Fabry disease (FD) is a rare, progressive, multisystem storage disorder caused by the partial or total deficit of the lysosomal enzyme α-galactosidase A (α-Gal A). It is an X-linked, lysosomal enzymopathy due to mutations in the galactosidase alpha gene (GLA), encoding the α-Gal A. To date, more than 900 mutations in this gene have been described. In our laboratories, the study of genetic and enzymatic alterations related to FD was performed in about 17,000 subjects with a symptomatolog ...[more]