1. Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease. Issue 5 (20th March 2015) Authors: Germain, Dominique P; Charrow, Joel; Desnick, Robert J; Guffon, Nathalie; Kempf, Judy; Lachmann, Robin H; Lemay, Roberta; Linthorst, Gabor E; Packman, Seymour; Scott, C Ronald; Waldek, Stephen; Warnock, David G; Weinreb, Neal J; Wilcox, William R Journal: Journal of medical genetics Issue: Volume 52:Issue 5(2015) Page Start: 353 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 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. Issue 8 (11th March 2020) Authors: Germain, Dominique P; Oliveira, João Paulo; Bichet, Daniel G; Yoo, Han-Wook; Hopkin, Robert J; Lemay, Roberta; Politei, Juan; Wanner, Christoph; Wilcox, William R; Warnock, David G Journal: Journal of medical genetics Issue: Volume 57:Issue 8(2020) Page Start: 542 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗