Sonja van Weely

Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease.

Carla E. M. Hollak, Sonja van Weely, M. H. van Oers et al. · Journal of Clinical Investigation · 1994 · 907 citations · Full text

Life Sciences, Biochemistry, Pathobiology +14

Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis

Timothy M. Cox, Robin Lachmann, C. E. Hollak et al. · The Lancet · 2000 · 744 citations

Medicine, Pharmacology, Pharmacotherapy +4

The frequency of lysosomal storage diseases in The Netherlands

Ben J. H. M. Poorthuis, Ron A. Wevers, Wim J. Kleijer et al. · Human Genetics · 1999 · 725 citations

Life Sciences, Genetics, Pathology +9

Sustained therapeutic effects of oral miglustat (Zavesca, <i>N</i>‐butyldeoxynojirimycin, OGT 918) in type I Gaucher disease

Deborah Elstein, Carla E. M. Hollak, Johannes M. F. G. Aerts et al. · Journal of Inherited Metabolic Disease · 2004 · 233 citations

Pharmacy, Pharmacotherapy, Neurobiology Of Disease +3

Demonstration of the existence of a second, non-lysosomal glucocerebrosidase that is not deficient in Gaucher disease

Sonja van Weely, Margreet Brandsma, Anneke Strijland et al. · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 1993 · 128 citations

Life Sciences, Biochemistry, Molecular Biology +11