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 · 715 citations · Full text

Metabolic Syndrome, Fabry Disease, Lipid Storage +15

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 · 467 citations

Urology, Medicine, Inherited Metabolic Disease +5

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 · 406 citations · Full text

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 · 335 citations · Full text

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 · 294 citations · Full text

Mendelian Disorder, Smith-lemli-opitz Syndrome Is, Genetic Disorder +8