The Spanish Fabry women study: a retrospective observational study describing the phenotype of females with GLA variants
Sánchez, Rosario, Ripoll-Vera, Tomás, López-Mendoza, Manuel, de Juan-Ribera, Joaquín, Gimeno, Juan Ramón, Hermida, Álvaro, Ruz-Zafra, María Aurora, Torregrosa, José Vicente, Mora, Antonia, García-Pinilla, José Manuel, Fortuny, Elena, Aguinaga-Barrilero, Ana, Torra, Roser
Published in Orphanet journal of rare diseases (09.01.2023)
Published in Orphanet journal of rare diseases (09.01.2023)
Get full text
Journal Article
First results from The Spanish Fabry Women Study: A retrospective observational study describing the phenotype of female carrying genetic variants associated to Fabry disease
Sánchez, Rosario, de Juan-Ribera, Joaquín, Gimeno, Juan Ramón, Ripoll-Vera, Tomás, López-Mendoza, Manuel, Hermida, Álvaro, Torra, Roser, Ruz-Zafra, Maria Aurora, Torregrosa, Vicent, Mora, Antonia, Fortuny, Elena, García-Pinilla, José Manuel
Published in Molecular genetics and metabolism (01.02.2022)
Published in Molecular genetics and metabolism (01.02.2022)
Get full text
Journal Article