O. P. van Diggelen

Niemann-Pick C1 Disease Gene: Homology to Mediators of Cholesterol Homeostasis

Eugene D. Carstea, Jill A. Morris, Katherine Coleman et al. · Science · 1997 · 1.5K citations

Life Sciences, Genetics, Molecular Biology +17

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

Elevated plasma chitotriosidase activity in various lysosomal storage disorders

Yufeng Guo, He Wang, A. M. Boer et al. · Journal of Inherited Metabolic Disease · 1995 · 208 citations · Full text

Life Sciences, Biochemistry, Pathology +8

A fluorimetric enzyme assay for the diagnosis of MPS II (Hunter disease)

Ya. V. Voznyi, J. L. M. Keulemans, O. P. van Diggelen · Journal of Inherited Metabolic Disease · 2001 · 194 citations

Life Sciences, Molecular Medicine, Pathology +16

Broad spectrum of Pompe disease in patients with the same c.-32-13T→G haplotype

Marian A. Kroos, Robert J. Pomponio, M.L.C. Hagemans et al. · Neurology · 2007 · 175 citations

Life Sciences, Genetics, Molecular Genetics +16