1. 18 Prevalence of aortic root dilatation in patients with fabry disease: a single centre experience. (4th June 2021) Authors: Peter, Christina; Zhao, Tian; Deegan, Patrick; Rusk, Rosemary Journal: Heart Issue: Volume 107(2021)Supplement 1 Page Start: A14 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Demographics and patient characteristics of 1209 patients with Gaucher disease: Descriptive analysis from the Gaucher Outcome Survey (GOS). Issue 2 (12th December 2017) Authors: Zimran, Ari; Belmatoug, Nadia; Bembi, Bruno; Deegan, Patrick; Elstein, Deborah; Fernandez‐Sasso, Diego; Giraldo, Pilar; Goker‐Alpan, Ozlem; Lau, Heather; Lukina, Elena; Panahloo, Zoya; Schwartz, Ida Vanessa D. Journal: American journal of hematology Issue: Volume 93:Issue 2(2018:Feb.) Page Start: 205 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Gaucher Disease in Bone: From Pathophysiology to Practice. (24th June 2019) Authors: Hughes, Derralynn; Mikosch, Peter; Belmatoug, Nadia; Carubbi, Francesca; Cox, TimothyM; Goker‐Alpan, Ozlem; Kindmark, Andreas; Mistry, PramodK; Poll, Ludger; Weinreb, Neal; Deegan, Patrick Journal: Journal of bone and mineral research Issue: Volume 34:Number 6(2019) Page Start: 996 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. MO035HISTORICAL CONTROL ANALYSIS DEMONSTRATES SUPERIOR REDUCTION OF PLASMA GLOBOTRIAOSYLCERAMIDE BY VENGLUSTAT COMPARED WITH PLACEBO OR AGALSIDASE BETA IN CLASSIC FABRY DISEASE PATIENTS. (6th June 2020) Authors: Germain, Dominique P; Wilcox, William; Deegan, Patrick; Liu, Kejian; Hailman, Eric; Ortiz, Alberto; Modur, Vijay Journal: Nephrology dialysis transplantation Issue: Volume 35(2020)Supplement 3 Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study. Issue 4 (10th November 2016) Authors: Hughes, Derralynn A; Nicholls, Kathleen; Shankar, Suma P; Sunder-Plassmann, Gere; Koeller, David; Nedd, Khan; Vockley, Gerard; Hamazaki, Takashi; Lachmann, Robin; Ohashi, Toya; Olivotto, Iacopo; Sakai, Norio; Deegan, Patrick; Dimmock, David; Eyskens, François; Germain, Dominique P; Goker-Alpan, O... Journal: Journal of medical genetics Issue: Volume 54:Issue 4(2017) Page Start: 288 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. P0062GLUCOSYLCERAMIDE SYNTHASE INHIBITION WITH VENGLUSTAT IN CLASSIC FABRY DISEASE PATIENTS LEADS TO PROGRESSIVE REDUCTION OF ENDOTHELIAL CELL GLOBOTRIAOSYLCERAMIDE INCLUSION VOLUME. (6th June 2020) Authors: Mauer, Michael; Goker-Alpan, Ozlem; Germain, Dominique P; Wilcox, William; Hopkin, Robert J; Lukina, Elena; Geberhiwot, Tarekegn; Deegan, Patrick; Tylki-Szymanska, Anna; Sensinger, Charlotte; Zaher, Atef; Hailman, Eric; Modur, Vijay; Najafian, Behzad Journal: Nephrology dialysis transplantation Issue: Volume 35(2020)Supplement 3 Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension. Issue 21 (21st November 2017) Authors: Hadinnapola, Charaka; Bleda, Marta; Haimel, Matthias; Screaton, Nicholas; Swift, Andrew; Dorfmüller, Peter; Preston, Stephen D.; Southwood, Mark; Hernandez-Sanchez, Jules; Martin, Jennifer; Treacy, Carmen; Yates, Katherine; Bogaard, Harm; Church, Colin; Coghlan, Gerry; Condliffe, Robin; Corris, P... Journal: Circulation Issue: Volume 136:Issue 21(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial. Issue 12 (December 2021) Authors: Diaz-Manera, Jordi; Kishnani, Priya S; Kushlaf, Hani; Ladha, Shafeeq; Mozaffar, Tahseen; Straub, Volker; Toscano, Antonio; van der Ploeg, Ans T; Berger, Kenneth I; Clemens, Paula R; Chien, Yin-Hsiu; Day, John W; Illarioshkin, Sergey; Roberts, Mark; Attarian, Shahram; Borges, Joao Lindolfo; Bouhou... Journal: Lancet neurology Issue: Volume 20:Issue 12(2021) Page Start: 1012 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial. Issue 12 (December 2021) Authors: Schoser, Benedikt; Roberts, Mark; Byrne, Barry J; Sitaraman, Sheela; Jiang, Hai; Laforêt, Pascal; Toscano, Antonio; Castelli, Jeff; Díaz-Manera, Jordi; Goldman, Mitchell; van der Ploeg, Ans T; Bratkovic, Drago; Kuchipudi, Srilakshmi; Mozaffar, Tahseen; Kishnani, Priya S; Sebok, Agnes; Pestronk, A... Journal: Lancet neurology Issue: Volume 20:Issue 12(2021) Page Start: 1027 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Study of indications for cardiac device implantation and utilisation in Fabry cardiomyopathy. Issue 23 (24th August 2019) Authors: Vijapurapu, Ravi; Geberhiwot, Tarekegn; Jovanovic, Ana; Baig, Shanat; Nordin, Sabrina; Kozor, Rebecca; Leyva, Francisco; Kotecha, Dipak; Wheeldon, Nigel; Deegan, Patrick; Rusk, Rosemary A; Moon, James C; Hughes, Derralynn A; Woolfson, Peter; Steeds, Richard P Journal: Heart Issue: Volume 105:Issue 23(2019) Page Start: 1825 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗