Rocío Blanco, Yolanda Rico-Ramírez, Álvaro Hermida-Ameijeiras, Israa Mahmoud Sanad Abdullah, Kolja Lau, Jorge Alvarez-Rubio, Elena Fortuny, Amparo Martínez-Monzonís, Albina Nowak, Peter Nordbeck, Carlos Veras-Burgos, Jaume Pons-Llinares, Emiliano Rossi, Fiama Caimi-Martínez, Teresa Bosch-Rovira, Marta Alamar-Cervera, Virginia Ruiz-Pizarro, Laura Torres-Juan, Damian Heine-Suñer, Tomás Ripoll-Vera
The p.Arg301Gln variant in the α -galactosidase A gene ( GLA ) has been poorly described in the literature. The few reports show controversial information, with both classical and nonclassical Anderson-Fabry Disease (AFD) presentation patterns. The aim of this study was to analyze the penetrance, clinical phenotype, and biochemical profile of an international cohort of patients carrying the p.Arg301Gln genetic variant in the GLA gene. This was an observational, international, and retrospective cohort case series study of patients carrying the p...
April 12, 2024: International Journal of Molecular Sciences