B
Ben J. H. M. Poorthuis
Researcher at University of Amsterdam
Publications - 83
Citations - 6144
Ben J. H. M. Poorthuis is an academic researcher from University of Amsterdam. The author has contributed to research in topics: Fabry disease & Enzyme replacement therapy. The author has an hindex of 41, co-authored 83 publications receiving 5693 citations. Previous affiliations of Ben J. H. M. Poorthuis include Leiden University Medical Center & Academic Medical Center.
Papers
More filters
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.
Journal ArticleDOI
Sanfilippo syndrome: a mini-review.
Marlies J. Valstar,George J G Ruijter,O. P. van Diggelen,Ben J. H. M. Poorthuis,Frits A. Wijburg,Frits A. Wijburg +5 more
TL;DR: Although currently no effective therapy is yet available for MPS III, several promising developments raise hope that therapeutic interventions, halting the devastating mental and behavioural deterioration, might be feasible in the near future.
Journal ArticleDOI
Clear Correlation of Genotype with Disease Phenotype in Very–Long-Chain Acyl-CoA Dehydrogenase Deficiency
Brage S. Andresen,Brage S. Andresen,Simon E. Olpin,Ben J. H. M. Poorthuis,Hans R. Scholte,Christine Vianey-Saban,Ronald J.A. Wanders,Lodewijk IJlst,Andrew A. M. Morris,Morteza Pourfarzam,Kim Bartlett,E. Regula Baumgartner,Johannis B.C. deKlerk,Lisbeth Dahl Schroeder,Lisbeth Dahl Schroeder,Thomas J. Corydon,Hans Lund,Vibeke Winter,Peter Bross,Lars Bolund,Niels Gregersen +20 more
TL;DR: A clear relationship between the nature of the mutation and the severity of disease is shown, in sharp contrast to what has been observed in medium-chain acyl-CoA dehydrogenase deficiency, in which no correlation between genotype and phenotype can be established.
Journal ArticleDOI
Dimethylmethylene blue-based spectrophotometry of glycosaminoglycans in untreated urine: a rapid screening procedure for mucopolysaccharidoses.
TL;DR: The present spectrophotometric procedure, based on the color reaction with dimethylmethylene blue (DMB), can be performed directly on untimed urine samples without prior precipitation and compares well with procedures used hitherto.