1. A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance. Issue 1 (6th August 2013) Authors: van der Tol, L; Smid, B E; Poorthuis, B J H M; Biegstraaten, M; Deprez, R H Lekanne; Linthorst, G E; Hollak, C E M Journal: Journal of medical genetics Issue: Volume 51:Issue 1(2014) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Congenital disorder of glycosylation type Ia presenting with hydrops fetalis. Issue 4 (8th December 2006) Authors: van de Kamp, J M; Lefeber, D J; Ruijter, G J G; Steggerda, S J; den Hollander, N S; Willems, S M; Matthijs, G; Poorthuis, B J H M; Wevers, R A Journal: Journal of medical genetics Issue: Volume 44:Issue 4(2007) Page Start: 277 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Screening for Fabry disease in high-risk populations: a systematic review. Issue 4 (24th September 2009) Authors: Linthorst, G E; Bouwman, M G; Wijburg, F A; Aerts, J M F G; Poorthuis, B J H M; Hollak, C E M Journal: Journal of medical genetics Issue: Volume 47:Issue 4(2010) Page Start: 217 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗