The Spanish Fabry women study: a retrospective observational study describing the phenotype of females with GLA variants.
Orphanet Journal Of Rare Diseases
Sánchez, Rosario R; Ripoll-Vera, Tomás T; López-Mendoza, Manuel M; de Juan-Ribera, Joaquín J; Gimeno, Juan Ramón JR; Hermida, Álvaro Á; Ruz-Zafra, María Aurora MA; Torregrosa, José Vicente JV; Mora, Antonia A; García-Pinilla, José Manuel JM; Fortuny, Elena E; Aguinaga-Barrilero, Ana A; Torra, Roser R
Publication Date: 2023-01-09
Variant appearance in text: GLA: 484T>G; Trp162Gly
Assessment of Gene Variant Amenability for Pharmacological Chaperone Therapy with 1-Deoxygalactonojirimycin in Fabry Disease.
International Journal Of Molecular Sciences
Lukas, Jan J; Cimmaruta, Chiara C; Liguori, Ludovica L; Pantoom, Supansa S; Iwanov, Katharina K; Petters, Janine J; Hund, Christina C; Bunschkowski, Maik M; Hermann, Andreas A; Cubellis, Maria Vittoria MV; Rolfs, Arndt A
Xiao, Ke K; Lu, Dongchao D; Hoepfner, Jeannine J; Santer, Laura L; Gupta, Shashi S; Pfanne, Angelika A; Thum, Sabrina S; Lenders, Malte M; Brand, Eva E; Nordbeck, Peter P; Thum, Thomas T
Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant.
Orphanet Journal Of Rare Diseases
Lenders, Malte M; Weidemann, Frank F; Kurschat, Christine C; Canaan-Kühl, Sima S; Duning, Thomas T; Stypmann, Jörg J; Schmitz, Boris B; Reiermann, Stefanie S; Krämer, Johannes J; Blaschke, Daniela D; Wanner, Christoph C; Brand, Stefan-Martin SM; Brand, Eva E