| Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease. CE Hollak, S van Weely, MH Van Oers, JM Aerts The Journal of clinical investigation 93 (3), 1288-1292, 1994 | 1102 | 1994 |
| Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis T Cox, R Lachmann, C Hollak, J Aerts, S Van Weely, M Hrebícek, F Platt, ... The Lancet 355 (9214), 1481-1485, 2000 | 947 | 2000 |
| Elevated globotriaosylsphingosine is a hallmark of Fabry disease JM Aerts, JE Groener, S Kuiper, WE Donker-Koopman, A Strijland, ... Proceedings of the National Academy of Sciences 105 (8), 2812-2817, 2008 | 784 | 2008 |
| Marked elevation of the chemokine CCL18/PARC in Gaucher disease: a novel surrogate marker for assessing therapeutic intervention RG Boot, M Verhoek, M De Fost, CEM Hollak, M Maas, B Bleijlevens, ... Blood 103 (1), 33-39, 2004 | 397 | 2004 |
| Characterization of classical and nonclassical Fabry disease: a multicenter study M Arends, C Wanner, D Hughes, A Mehta, D Oder, OT Watkinson, ... Journal of the American Society of Nephrology 28 (5), 1631-1641, 2017 | 355 | 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 | 355 | 2015 |
| Enzyme therapy for Fabry disease: neutralizing antibodies toward agalsidase alpha and beta GE Linthorst, CEM Hollak, WE Donker-Koopman, A Strijland, JMFG Aerts Kidney international 66 (4), 1589-1595, 2004 | 317 | 2004 |
| Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response N Dekker, L van Dussen, CEM Hollak, H Overkleeft, S Scheij, ... Blood, The Journal of the American Society of Hematology 118 (16), e118-e127, 2011 | 297 | 2011 |
| 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 |
| Elevated plasma chitotriosidase activity in various lysosomal storage disorders Y Guo, W He, AM Boer, RA Wevers, AM De Bruijn, JEM Groener, ... Journal of inherited metabolic disease 18 (6), 717-722, 1995 | 290 | 1995 |
| Sustained therapeutic effects of oral miglustat (Zavesca, N‐butyldeoxynojirimycin, OGT 918) in type I Gaucher disease D Elstein, C Hollak, J Aerts, S Van Weely, M Maas, TM Cox, ... Journal of inherited metabolic disease 27 (6), 757-766, 2004 | 285 | 2004 |
| Ultrasensitive in situ visualization of active glucocerebrosidase molecules MD Witte, WW Kallemeijn, J Aten, KY Li, A Strijland, WE Donker-Koopman, ... Nature chemical biology 6 (12), 907-913, 2010 | 277 | 2010 |
| Treatment of Fabry disease: outcome of a comparative trial with agalsidase alfa or beta at a dose of 0.2 mg/kg AC Vedder, GE Linthorst, G Houge, JEM Groener, EE Ormel, BJ Bouma, ... PloS one 2 (7), e598, 2007 | 271 | 2007 |
| Plasma globotriaosylsphingosine: diagnostic value and relation to clinical manifestations of Fabry disease SM Rombach, N Dekker, MG Bouwman, GE Linthorst, AH Zwinderman, ... Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1802 (9), 741-748, 2010 | 270 | 2010 |
| The Dutch Fabry cohort: Diversity of clinical manifestations and Gb3 levels AC Vedder, GE Linthorst, MJ Van Breemen, JEM Groener, FJ Bemelman, ... Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2007 | 236 | 2007 |
| Increased incidence of cancer in adult Gaucher disease in Western Europe M de Fost, S Vom Dahl, GJ Weverling, N Brill, S Brett, D Häussinger, ... Blood Cells, Molecules, and Diseases 36 (1), 53-58, 2006 | 236 | 2006 |
| A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance L Van der Tol, BE Smid, B Poorthuis, M Biegstraaten, RHL Deprez, ... Journal of medical genetics 51 (1), 1-9, 2014 | 234 | 2014 |
| 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 | 215 | 2004 |
| 4 Plasma and metabolic abnormalities in Gaucher's disease JMFG Aerts, CEM Hollak Baillière's clinical haematology 10 (4), 691-709, 1997 | 208 | 1997 |
| Quantification of bone involvement in Gaucher disease: MR imaging bone marrow burden score as an alternative to Dixon quantitative chemical shift MR imaging—initial experience M Maas, C van Kuijk, J Stoker, CEM Hollak, EM Akkerman, JFMG Aerts, ... Radiology 229 (2), 554-561, 2003 | 205 | 2003 |
