Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry NJ Weinreb, J Charrow, HC Andersson, P Kaplan, EH Kolodny, P Mistry, ... The American journal of medicine 113 (2), 112-119, 2002 | 715 | 2002 |
Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human α-L-iduronidase (laronidase) JE Wraith, LA Clarke, M Beck, EH Kolodny, GM Pastores, J Muenzer, ... The Journal of pediatrics 144 (5), 581-588, 2004 | 699 | 2004 |
The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease J Charrow, HC Andersson, P Kaplan, EH Kolodny, P Mistry, G Pastores, ... Archives of internal medicine 160 (18), 2835-2843, 2000 | 657 | 2000 |
Enzyme therapy in type 1 Gaucher disease: comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources GA Grabowski, NW Barton, G Pastores, JM Dambrosia, TK Banerjee, ... Annals of internal medicine 122 (1), 33-39, 1995 | 603 | 1995 |
Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry WR Wilcox, JP Oliveira, RJ Hopkin, A Ortiz, M Banikazemi, ... Molecular genetics and metabolism 93 (2), 112-128, 2008 | 599 | 2008 |
Therapeutic goals in the treatment of Gaucher disease GM Pastores, NJ Weinreb, H Aerts, G Andria, TM Cox, M Giralt, ... Seminars in hematology 41, 4-14, 2004 | 554 | 2004 |
Fabry disease: guidelines for the evaluation and management of multi-organ system involvement CM Eng, DP Germain, M Banikazemi, DG Warnock, C Wanner, RJ Hopkin, ... Genetics in Medicine 8 (9), 539-548, 2006 | 549 | 2006 |
Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I LA Clarke, JE Wraith, M Beck, EH Kolodny, GM Pastores, J Muenzer, ... Pediatrics 123 (1), 229-240, 2009 | 413 | 2009 |
Neurology of hereditary metabolic diseases of children RD Adams, G Lyon (No Title), 1982 | 407 | 1982 |
The role of the iminosugar N‐butyldeoxynojirimycin (miglustat) in the management of type I (non‐neuronopathic) Gaucher disease: A position statement TM Cox, J Aerts, G Andria, M Beck, N Belmatoug, B Bembi, R Chertkoff, ... Journal of inherited metabolic disease 26 (6), 513-526, 2003 | 290 | 2003 |
Patients with Fabry disease on dialysis in the United States R Thadhani, M Wolf, ML West, M Tonelli, R Ruthazer, GM Pastores, ... Kidney international 61 (1), 249-255, 2002 | 273 | 2002 |
The MPS I registry: design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I GM Pastores, P Arn, M Beck, JTR Clarke, N Guffon, P Kaplan, J Muenzer, ... Molecular genetics and metabolism 91 (1), 37-47, 2007 | 269 | 2007 |
Enzyme therapy in Gaucher disease type 1: dosage efficacy and adverse effects in 33 patients treated for 6 to 24 months GM Pastores, AR Sibille, GA Grabowski | 255 | 1993 |
Gaucher disease GM Pastores, DA Hughes | 244 | 2018 |
The risk of Parkinson’s disease in type 1 Gaucher disease G Bultron, K Kacena, D Pearson, M Boxer, R Yang, S Sathe, G Pastores, ... Journal of inherited metabolic disease 33, 167-173, 2010 | 242 | 2010 |
Enzyme replacement therapy for Anderson‐Fabry disease R El Dib, H Gomaa, RP Carvalho, SE Camargo, R Bazan, P Barretti, ... Cochrane Database of Systematic Reviews, 2016 | 240 | 2016 |
Gaucher disease: recommendations on diagnosis, evaluation, and monitoring J Charrow, JA Esplin, TJ Gribble, P Kaplan, EH Kolodny, GM Pastores, ... Archives of internal medicine 158 (16), 1754-1760, 1998 | 230 | 1998 |
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 |
Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients NJ Weinreb, MC Aggio, HC Andersson, G Andria, J Charrow, JTR Clarke, ... Seminars in hematology 41, 15-22, 2004 | 216 | 2004 |
Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations J Charrow, HC Andersson, P Kaplan, EH Kolodny, P Mistry, G Pastores, ... The Journal of pediatrics 144 (1), 112-120, 2004 | 207 | 2004 |