Variable clinical features of patients with Fabry disease and outcome of enzyme replacement therapy.
Molecular Genetics And Metabolism Reports
Dutra-Clarke, Marina M; Tapia, Daisy D; Curtin, Emily E; Rünger, Dennis D; Lee, Grace K GK; Lakatos, Anita A; Alandy-Dy, Zyza Z; Freedkin, Linda L; Hall, Kathy K; Ercelen, Nesrin N; Alandy-Dy, Jousef J; Knight, Margaret M; Pahl, Madeleine M; Lombardo, Dawn D; Kimonis, Virginia V
Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: a consensus classification system by a multispecialty Fabry disease genotype-phenotype workgroup.
Journal Of Medical Genetics
Germain, Dominique P DP; Oliveira, João Paulo JP; Bichet, Daniel G DG; Yoo, Han-Wook HW; Hopkin, Robert J RJ; Lemay, Roberta R; Politei, Juan J; Wanner, Christoph C; Wilcox, William R WR; Warnock, David G DG
Fabry disease in the Spanish population: observational study with detection of 77 patients.
Orphanet Journal Of Rare Diseases
Vieitez, Irene I; Souto-Rodriguez, Olga O; Fernandez-Mosquera, Lorena L; San Millan, Beatriz B; Teijeira, Susana S; Fernandez-Martin, Julian J; Martinez-Sanchez, Felisa F; Aldamiz-Echevarria, Luis Jose LJ; Lopez-Rodriguez, Monica M; Navarro, Carmen C; Ortolano, Saida S