1. A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness. Issue 4 (April 2022) Authors: Issler, Naomi; Afonso, Sara; Weissman, Irith; Jordan, Katrin; Cebrian-Serrano, Alberto; Meindl, Katrin; Dahlke, Eileen; Tziridis, Konstantin; Yan, Guanhua; Robles-López, José M.; Tabernero, Lydia; Patel, Vaksha; Kesselheim, Anne; Klootwijk, Enriko D.; Stanescu, Horia C.; Dumitriu, Simona; Iancu, ... Journal: Journal of the American Society of Nephrology Issue: Volume 33:Issue 4(2022) Page Start: 732 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Hunter syndrome follow-up after 1 year of enzyme-replacement therapy. (9th January 2013) Authors: Puiu, Maria; Chiriţă-Emandi, Adela; Dumitriu, Simona; Arghirescu, Smaranda Journal: BMJ case reports Issue: Volume 2013 Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗