1. 'Doctor Google' ending the diagnostic odyssey in lysosomal storage disorders: parents using internet search engines as an efficient diagnostic strategy in rare diseases. Issue 8 (23rd April 2010) Authors: Bouwman, Machtelt G; Teunissen, Quirine G A; Wijburg, Frits A; Linthorst, Gabor E Journal: Archives of disease in childhood Issue: Volume 95:Issue 8(2010) Page Start: 642 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease. Issue 4 (16th January 2015) Authors: Smid, Bouwien E; van der Tol, Linda; Biegstraaten, Marieke; Linthorst, Gabor E; Hollak, Carla E M; Poorthuis, Ben J H M Journal: Journal of medical genetics Issue: Volume 52:Issue 4(2015) Page Start: 262 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. 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) ↗