Enzyme Replacement Therapy for FABRY Disease: Possible Strategies to Improve Its Efficacy.
International Journal Of Molecular Sciences
Iacobucci, Ilaria I; Hay Mele, Bruno B; Cozzolino, Flora F; Monaco, Vittoria V; Cimmaruta, Chiara C; Monti, Maria M; Andreotti, Giuseppina G; Monticelli, Maria M
Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23
Variant appearance in text: GLA: 982G>C; Gly328Arg
The Benefits of Family Screening in Rare Diseases: Genetic Testing Reveals 165 New Cases of Fabry Disease among At-Risk Family Members of 83 Index Patients.
Genes
Moiseev, Sergey S; Tao, Ekaterina E; Moiseev, Alexey A; Bulanov, Nikolay N; Filatova, Ekaterina E; Fomin, Victor V; Germain, Dominique P DP
Publication Date: 2022-09-09
Variant appearance in text: GLA: 982G>C; Gly328Arg
Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study.
Molecular Genetics & Genomic Medicine
Germain, Dominique P DP; Brand, Eva E; Burlina, Alessandro A; Cecchi, Franco F; Garman, Scott C SC; Kempf, Judy J; Laney, Dawn A DA; Linhart, Aleš A; Maródi, László L; Nicholls, Kathy K; Ortiz, Alberto A; Pieruzzi, Federico F; Shankar, Suma P SP; Waldek, Stephen S; Wanner, Christoph C; Jovanovic, Ana A
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
Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial.
Plos One
Wijburg, Frits A FA; Bénichou, Bernard B; Bichet, Daniel G DG; Clarke, Lorne A LA; Dostalova, Gabriela G; Fainboim, Alejandro A; Fellgiebel, Andreas A; Forcelini, Cassiano C; An Haack, Kristina K; Hopkin, Robert J RJ; Mauer, Michael M; Najafian, Behzad B; Scott, C Ronald CR; Shankar, Suma P SP; Thurberg, Beth L BL; Tøndel, Camilla C; Tylki-Szymańska, Anna A; Ramaswami, Uma U
Publication Date: 2015
Variant appearance in text: GLA: 982G>C; Gly328Arg
Screening for pharmacological chaperones in Fabry disease.
Biochemical And Biophysical Research Communications
Shin, Sang-Hoon SH; Murray, Gary J GJ; Kluepfel-Stahl, Stefanie S; Cooney, Adele M AM; Quirk, Jane M JM; Schiffmann, Raphael R; Brady, Roscoe O RO; Kaneski, Christine R CR