| Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey A Mehta, R Ricci, U Widmer, F Dehout, A Garcia de Lorenzo, ... European journal of clinical investigation 34 (3), 236-242, 2004 | 1042 | 2004 |
| Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data A Mehta, M Beck, P Elliott, R Giugliani, A Linhart, G Sunder-Plassmann, ... The Lancet 374 (9706), 1986-1996, 2009 | 335 | 2009 |
| Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion setting R Schiffmann, M Ries, M Timmons, JT Flaherty, RO Brady Nephrology Dialysis Transplantation 21 (2), 345-354, 2006 | 311 | 2006 |
| The Mainz Severity Score Index: a new instrument for quantifying the Anderson–Fabry disease phenotype, and the response of patients to enzyme replacement therapy C Whybra, C Kampmann, F Krummenauer, M Ries, E Mengel, E Miebach, ... Clinical genetics 65 (4), 299-307, 2004 | 308 | 2004 |
| Pediatric Fabry disease M Ries, S Gupta, DF Moore, V Sachdev, JM Quirk, GJ Murray, DR Rosing, ... Pediatrics 115 (3), e344, 2005 | 298 | 2005 |
| 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 (11), 767-772, 2003 | 282 | 2003 |
| Randomized, controlled trial of miglustat in Gaucher's disease type 3 R Schiffmann, EJ FitzGibbon, C Harris, C DeVile, EH Davies, L Abel, ... Annals of Neurology: Official Journal of the American Neurological …, 2008 | 277 | 2008 |
| Cardiac manifestations of Anderson-Fabry disease in heterozygous females C Kampmann, F Baehner, C Whybra, C Martin, CM Wiethoff, M Ries, ... Journal of the American College of Cardiology 40 (9), 1668-1674, 2002 | 253 | 2002 |
| Agalsidase alfa and kidney dysfunction in Fabry disease M West, K Nicholls, A Mehta, JTR Clarke, R Steiner, M Beck, BA Barshop, ... Journal of the American Society of Nephrology 20 (5), 1132-1139, 2009 | 221 | 2009 |
| Enzyme-replacement therapy with agalsidase alfa in children with Fabry disease M Ries, JTR Clarke, C Whybra, M Timmons, C Robinson, BL Schlaggar, ... Pediatrics 118 (3), 924-932, 2006 | 216 | 2006 |
| 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 | 187 | 2017 |
| Disease manifestations and X inactivation in heterozygous females with Fabry disease EM Maier, S Osterrieder, C Whybra, M Ries, A Gal, M Beck, AA Roscher, ... Acta Paediatrica 95, 30-38, 2006 | 168 | 2006 |
| The relationship of vascular glycolipid storage to clinical manifestations of Fabry disease: a cross-sectional study of a large cohort of clinically affected heterozygous women S Gupta, M Ries, S Kotsopoulos, R Schiffmann Medicine 84 (5), 261-268, 2005 | 161 | 2005 |
| Weekly enzyme replacement therapy may slow decline of renal function in patients with Fabry disease who are on long-term biweekly dosing R Schiffmann, H Askari, M Timmons, C Robinson, W Benko, RO Brady, ... Journal of the American Society of Nephrology 18 (5), 1576-1583, 2007 | 159 | 2007 |
| Pathological findings in a patient with Fabry disease who died after 2.5 years of enzyme replacement R Schiffmann, A Rapkiewicz, M Abu-Asab, M Ries, H Askari, M Tsokos, ... Virchows Archiv 448 (3), 337-343, 2006 | 129 | 2006 |
| Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann–Pick disease type A/B and C M Ries, E Schaefer, T Lührs, L Mani, J Kuhn, MT Vanier, F Krummenauer, ... Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2006 | 127 | 2006 |
| Thirty‐four novel mutations of the GLA gene in 121 patients with Fabry disease E Schäfer, K Baron, U Widmer, P Deegan, H PH Neumann, ... Human mutation 25 (4), 412-412, 2005 | 114 | 2005 |
| Enzyme replacement therapy and intraepidermal innervation density in Fabry disease R Schiffmann, P Hauer, B Freeman, M Ries, LJC Scott, M Polydefkis, ... Muscle & Nerve: Official Journal of the American Association of …, 2006 | 100 | 2006 |
| Cardiac involvement in Anderson-Fabry disease C Kampmann, F Baehner, M Ries, M Beck Journal of the American Society of Nephrology 13 (suppl 2), S147-S149, 2002 | 98 | 2002 |
| Neuropathic and cerebrovascular correlates of hearing loss in Fabry disease M Ries, HJ Kim, CK Zalewski, MA Mastroianni, DF Moore, RO Brady, ... Brain 130 (1), 143-150, 2007 | 94 | 2007 |
