A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome) J Muenzer, JE Wraith, M Beck, R Giugliani, P Harmatz, CM Eng, A Vellodi, ... Genetics in medicine 8 (8), 465-473, 2006 | 736 | 2006 |
Statins for children with familial hypercholesterolemia A Vuorio, J Kuoppala, PT Kovanen, SE Humphries, S Tonstad, ... Cochrane Database of Systematic Reviews, 2017 | 453 | 2017 |
Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document M Biegstraaten, R Arngrímsson, F Barbey, L Boks, F Cecchi, PB Deegan, ... Orphanet journal of rare diseases 10, 1-10, 2015 | 395 | 2015 |
Clinical manifestations of Fabry disease in children: data from the Fabry Outcome Survey U Ramaswami, C Whybra, R Parini, G Pintos‐Morell, A Mehta, ... Acta paediatrica 95 (1), 86-92, 2006 | 346 | 2006 |
Fabry disease: overall effects of agalsidase alfa treatment M Beck, R Ricci, U Widmer, F Dehout, AG De Lorenzo, C Kampmann, ... European journal of clinical investigation 34 (12), 838-844, 2004 | 306 | 2004 |
Consensus clinical management guidelines for Niemann-Pick disease type C T Geberhiwot, A Moro, A Dardis, U Ramaswami, S Sirrs, MP Marfa, ... Orphanet journal of rare diseases 13, 1-19, 2018 | 299 | 2018 |
The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents M Ries, U Ramaswami, R Parini, B Lindblad, C Whybra, I Willers, A Gal, ... European journal of pediatrics 162, 767-772, 2003 | 293 | 2003 |
Fabry disease: a review of current management strategies A Mehta, M Beck, F Eyskens, C Feliciani, I Kantola, U Ramaswami, ... QJM: An International Journal of Medicine 103 (9), 641-659, 2010 | 292 | 2010 |
Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome J Muenzer, M Beck, CM Eng, R Giugliani, P Harmatz, R Martin, ... Genetics in Medicine 13 (2), 95-101, 2011 | 260 | 2011 |
Multidisciplinary management of Hunter syndrome J Muenzer, M Beck, CM Eng, ML Escolar, R Giugliani, NH Guffon, ... Pediatrics 124 (6), e1228-e1239, 2009 | 252 | 2009 |
Bone marrow transplantation for mucopolysaccharidosis type I: experience of two British centres A Vellodi, EP Young, A Cooper, JE Wraith, B Winchester, C Meaney, ... Archives of disease in childhood 76 (2), 92-99, 1997 | 241 | 1997 |
Fabry disease and the skin: data from FOS, the Fabry outcome survey CH Orteu, T Jansen, O Lidove, R Jaussaud, DA Hughes, G Pintos‐Morell, ... British Journal of Dermatology 157 (2), 331-337, 2007 | 226 | 2007 |
Screening, diagnosis, and management of patients with Fabry disease: conclusions from a “Kidney Disease: Improving Global Outcomes”(KDIGO) Controversies Conference R Schiffmann, DA Hughes, GE Linthorst, A Ortiz, E Svarstad, DG Warnock, ... Kidney international 91 (2), 284-293, 2017 | 211 | 2017 |
An activating mutation of AKT2 and human hypoglycemia K Hussain, B Challis, N Rocha, F Payne, M Minic, A Thompson, A Daly, ... Science 334 (6055), 474-474, 2011 | 203 | 2011 |
Mortality and cause of death in mucopolysaccharidosis type II—a historical review based on data from the Hunter Outcome Survey (HOS) SA Jones, Z Almássy, M Beck, K Burt, JT Clarke, R Giugliani, C Hendriksz, ... Journal of inherited metabolic disease 32, 534-543, 2009 | 183 | 2009 |
Long-term effectiveness of agalsidase alfa enzyme replacement in Fabry disease: A Fabry Outcome Survey analysis M Beck, D Hughes, C Kampmann, S Larroque, A Mehta, G Pintos-Morell, ... Molecular genetics and metabolism reports 3, 21-27, 2015 | 156 | 2015 |
Proposed stages of myocardial phenotype development in Fabry disease S Nordin, R Kozor, K Medina-Menacho, A Abdel-Gadir, S Baig, DM Sado, ... JACC: Cardiovascular Imaging 12 (8 Part 2), 1673-1683, 2019 | 145 | 2019 |
Glycogen storage disease type IX: high variability in clinical phenotype NJ Beauchamp, A Dalton, U Ramaswami, H Niinikoski, K Mention, ... Molecular genetics and metabolism 92 (1-2), 88-99, 2007 | 144 | 2007 |
Enzyme replacement therapy with agalsidase alfa in children with Fabry disease U Ramaswami, S Wendt, G Pintos‐Morell, R Parini, C Whybra, ... Acta paediatrica 96 (1), 122-127, 2007 | 131 | 2007 |
International Atherosclerosis Society guidance for implementing best practice in the care of familial hypercholesterolaemia GF Watts, SS Gidding, RA Hegele, FJ Raal, AC Sturm, LK Jones, ... Nature Reviews Cardiology 20 (12), 845-869, 2023 | 124 | 2023 |