Frits A. Wijburg

Elevated globotriaosylsphingosine is a hallmark of Fabry disease

Johannes M. F. G. Aerts, J.E.M. Groener, Sijmen Kuiper et al. · Proceedings of the National Academy of Sciences · 2008 · 727 citations · Full text

Life Sciences, Biochemistry, Pathology +14

Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update

Marc C. Patterson, Christian J. Hendriksz, Mark Walterfang et al. · Molecular Genetics and Metabolism · 2012 · 478 citations

Medicine, Internal Medicine, Pathology +7

Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study

Maarten Arends, Christoph Wanner, Derralynn Hughes et al. · Journal of the American Society of Nephrology · 2016 · 421 citations · Full text

Veterinary Medicine, Cardiology, Clinical Sciences +9

Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document

Marieke Biegstraaten, Reynir Arngrı́msson, Frédéric Barbey et al. · Orphanet Journal of Rare Diseases · 2015 · 345 citations · Full text

Life Sciences, Internal Medicine, Pharmacotherapy +13

Smith-Lemli-Opitz Syndrome Is Caused by Mutations in the 7-Dehydrocholesterol Reductase Gene

Hans R. Waterham, Frits A. Wijburg, Raoul C. M. Hennekam et al. · The American Journal of Human Genetics · 1998 · 297 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9