Carla E. M. Hollak

Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease.

Carla E. M. Hollak, Sonja van Weely, M. H. van Oers et al. · Journal of Clinical Investigation · 1994 · 907 citations · Full text

Life Sciences, Biochemistry, Pathobiology +14

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

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

Marked elevation of the chemokine CCL18/PARC in Gaucher disease: a novel surrogate marker for assessing therapeutic intervention

Rolf G. Boot, Marri Verhoek, Maaike de Fost et al. · Blood · 2003 · 338 citations · Full text

Life Sciences, Immunology, Pathology +15