J
Johanna E. M. Groener
Researcher at University of Amsterdam
Publications - 63
Citations - 4908
Johanna E. M. Groener is an academic researcher from University of Amsterdam. The author has contributed to research in topics: Enzyme replacement therapy & Fabry disease. The author has an hindex of 33, co-authored 63 publications receiving 4536 citations. Previous affiliations of Johanna E. M. Groener include Leiden University & University of Graz.
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Journal ArticleDOI
The frequency of lysosomal storage diseases in The Netherlands
Ben J. H. M. Poorthuis,Ron A. Wevers,W. J. Kleijer,Johanna E. M. Groener,J.G.N. de Jong,S. van Weely,K. E. Niezen-Koning,O. P. van Diggelen +7 more
TL;DR: The relative frequency and the birth prevalence of lysosomal storage diseases in The Netherlands based on all 963 enzymatically confirmed cases diagnosed during the period 1970–1996 is calculated.
Journal ArticleDOI
Elevated globotriaosylsphingosine is a hallmark of Fabry disease
Johannes M. F. G. Aerts,Johanna E. M. Groener,Sijmen Kuiper,Wilma E. Donker-Koopman,Anneke Strijland,Roelof Ottenhoff,Cindy P. A. A. van Roomen,Mina Mirzaian,Frits A. Wijburg,Gabor E. Linthorst,Anouk C. Vedder,Saskia M. Rombach,Josanne Cox-Brinkman,Pentti Somerharju,Rolf G. Boot,Carla E. M. Hollak,Roscoe O. Brady,Ben J. H. M. Poorthuis +17 more
TL;DR: It is shown that globotriaosylsphingosine is an inhibitor of α-galactosidase A activity and the increased intima-media thickness in Fabry patients therefore may be related to the presence of this metabolite.
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Kupffer cells promote hepatic steatosis via interleukin-1β–dependent suppression of peroxisome proliferator-activated receptor α activity
Rinke Stienstra,Fredy Z. Saudale,Caroline Duval,Shohreh Keshtkar,Johanna E. M. Groener,Nico van Rooijen,Bart Staels,Sander Kersten,Michael Müller +8 more
TL;DR: In this article, the effect of Kupffer cells on hepatic triglyceride storage was investigated in mice rendered obese and steatotic by chronic high-fat feeding were treated for 1 week with clodronate liposomes.
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Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response
Nick Dekker,Laura van Dussen,Carla E. M. Hollak,Herman S. Overkleeft,Saskia Scheij,Karen Ghauharali,Mariëlle J. van Breemen,Maria J. Ferraz,Johanna E. M. Groener,Mario Maas,Frits A. Wijburg,Dave Speijer,Anna Tylki-Szymańska,Pramod K. Mistry,Rolf G. Boot,Johannes M. F. G. Aerts +15 more
TL;DR: The findings show that plasma glucosylsphingosine can qualify as a biomarker for type 1 Gaucher disease, but that further investigations are warranted regarding its relationship with clinical manifestations of Gauchers disease.
Journal ArticleDOI
Elevated plasma chitotriosidase activity in various lysosomal storage disorders.
Yufeng Guo,Wang He,A. M. Boer,Ron A. Wevers,A. M. De Bruijn,Johanna E. M. Groener,C.E.M. Hollak,Johannes M. F. G. Aerts,Hans Galjaard,O. P. van Diggelen +9 more
TL;DR: Investigation of 24 different lysosomal storage diseases shows that marked elevation of chitotriosidase activity in plasma appears to be specific for Gaucher disease, and suggests that elevated levels in plasma from patients with unexplained diseases may be indicative for a lysOSomal disorder.