Otto P. van Diggelen

Long-Term Intravenous Treatment of Pompe Disease With Recombinant Human α-Glucosidase From Milk

Johanna M. P. van den Hout, Joep H. J. Kamphoven, Léon P. F. Winkel et al. · PEDIATRICS · 2004 · 348 citations

Enzyme replacement therapy in late‐onset Pompe's disease: A three‐year follow‐up

Léon P. F. Winkel, Johanna M. P. van den Hout, Joep H. J. Kamphoven et al. · Annals of Neurology · 2004 · 230 citations

Mucopolysaccharidosis type IIIA: Clinical spectrum and genotype‐phenotype correlations

M. J. Valstar, Sanne Neijs, Hennie T. Brüggenwirth et al. · Annals of Neurology · 2010 · 185 citations

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

Palmitoyl protein thioesterase 1 is targeted to the axons in neurons

Laura Ahtiainen, Otto P. van Diggelen, Anu Jalanko et al. · The Journal of Comparative Neurology · 2002 · 100 citations