J. L. M. Keulemans

Characterization and localization of the FMR-1 gene product associated with fragile X syndrome

Coleta Verheij, Cathy Bakker, Esther de Graaff et al. · Nature · 1993 · 340 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

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

A fluorimetric enzyme assay for the diagnosis of sanfilippo disease type A (MPS IIIA)

Ya. V. Voznyi, J. L. M. Keulemans, A.T. Hoogeveen et al. · Journal of Inherited Metabolic Disease · 1995 · 123 citations · Full text

Medicine, Pathology, Molecular Pathology +2

Adult neuronal ceroid lipofuscinosis with palmitoyl‐protein thioesterase deficiency: First adult‐onset patients of a childhood disease

Otto P. van Diggelen, Stéphane Thobois, Caroline Tilikete et al. · Annals of Neurology · 2001 · 117 citations

Life Sciences, Neurology, Neuroscience +17