1. Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study. Issue 4 (12th April 2018) Authors: Germain, Dominique P.; Brand, Eva; Burlina, Alessandro; Cecchi, Franco; Garman, Scott C.; Kempf, Judy; Laney, Dawn A.; Linhart, Aleš; Maródi, László; Nicholls, Kathy; Ortiz, Alberto; Pieruzzi, Federico; Shankar, Suma P.; Waldek, Stephen; Wanner, Christoph; Jovanovic, Ana Journal: Molecular genetics & genomic medicine Issue: Volume 6:Issue 4(2018) Page Start: 492 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 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) ↗
3. Time to treatment benefit for adult patients with Fabry disease receiving agalsidase β: data from the Fabry Registry. Issue 7 (18th March 2016) Authors: Ortiz, Alberto; Abiose, Ademola; Bichet, Daniel G; Cabrera, Gustavo; Charrow, Joel; Germain, Dominique P; Hopkin, Robert J; Jovanovic, Ana; Linhart, Aleš; Maruti, Sonia S; Mauer, Michael; Oliveira, João P; Patel, Manesh R; Politei, Juan; Waldek, Stephen; Wanner, Christoph; Yoo, Han-Wook; Warnock,... Journal: Journal of medical genetics Issue: Volume 53:Issue 7(2016) Page Start: 495 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗