S. van Weely

发表

Predictors of orphan drug approval in the European Union

H. Leufkens, H. Büller, H. Heemstra, 2008, European Journal of Clinical Pharmacology.

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

C. Hollak, M. V. van Oers, S. van Weely, 1994, The Journal of clinical investigation.

Sustained therapeutic effects of oral miglustat (Zavesca, N-butyldeoxynojirimycin, OGT 918) in type I Gaucher disease

R. Dwek, J. M. Aerts, C. Hollak, 2004, Journal of Inherited Metabolic Disease.

Oral maintenance clinical trial with miglustat for type I Gaucher disease: switch from or combination with intravenous enzyme replacement.

S. van Weely, J. Aerts, D. Elstein, 2007, Blood.

The frequency of lysosomal storage diseases in The Netherlands

R. A. Wevers, R. Wevers, B. Poorthuis, 1999, Human Genetics.

Inhibition of substrate synthesis as a strategy for glycolipid lysosomal storage disease therapy

R. Dwek, J. M. Aerts, C. Hollak, 2001, Journal of Inherited Metabolic Disease.

Oligosaccharide excretion in adult Gaucher disease

R. Wevers, C. Hollak, S. van Weely, 1998, Journal of Inherited Metabolic Disease.

Characterization of glucocerebrosidase in peripheral blood cells and cultured blastoid cells.

J. Barranger, S. van Weely, J. Tager, 1988, Experimental cell research.

Glucocerebrosidase, a lysosomal enzyme that does not undergo oligosaccharide phosphorylation.

E. Ginns, J. Barranger, S. van Weely, 1988, Biochimica et biophysica acta.

Function of oligosaccharide modification in glucocerebrosidase, a membrane-associated lysosomal hydrolase.

J. Barranger, S. van Weely, J. Tager, 1990, European journal of biochemistry.

The identification of type 1 Gaucher disease patients, asymptomatic cases and carriers in The Netherlands using urine samples: an evaluation.

S. van Weely, M. S. Sá Miranda, J. Aerts, 1991, Clinica chimica acta; international journal of clinical chemistry.

Plasma tumor necrosis factor-a (TNF-a) levels in Gaucher disease.

C. Hollak, M. V. van Oers, S. van Weely, 1996, Biochimica et biophysica acta.

Quantitative analysis of the targeting of mannose-terminal glucocerebrosidase. Predominant uptake by liver endothelial cells.

T. V. van Berkel, S. van Weely, J. Aerts, 1996, European journal of biochemistry.

Demonstration of the existence of a second, non-lysosomal glucocerebrosidase that is not deficient in Gaucher disease.

J. M. Aerts, S. van Weely, J. Tager, 1993, Biochimica et biophysica acta.

Clinical phenotype of Gaucher disease in relation to properties of mutant glucocerebrosidase in cultured fibroblasts.

J. Goldblatt, J. Barranger, I. Jansen, 1991, Biochimica et biophysica acta.

Role of pH in determining the cell-type-specific residual activity of glucocerebrosidase in type 1 Gaucher disease.

M. van den Berg, J. Barranger, S. van Weely, 1993, The Journal of clinical investigation.

Conditions affecting the activity of glucocerebrosidase purified from spleens of control subjects and patients with type 1 Gaucher disease.

J. Barranger, S. van Weely, J. Tager, 1990, Biochimica et biophysica acta.

Comparative study on glucocerebrosidase in spleens from patients with Gaucher disease.

S. Brul, J. Barranger, S. van Weely, 1990, The Biochemical journal.

Glucocerebrosidase genotype of Gaucher patients in The Netherlands: Limitations in prognostic value

R. Wevers, C. Hollak, M. V. van Oers, 1997, Human mutation.

Translation of rare disease research into orphan drug development: disease matters.

H. Leufkens, H. Büller, H. Heemstra, 2009, Drug Discovery Today.

Hepatosplenomegalic lipidosis: what unless Gaucher? Adult cholesteryl ester storage disease (CESD) with anemia, mesenteric lipodystrophy, increased plasma chitotriosidase activity and a homozygous lysosomal acid lipase -1 exon 8 splice junction mutation.

D. Häussinger, C. Niederau, A. Rolfs, 1999, Journal of hepatology.

Efficient routing of glucocerebrosidase to lysosomes requires complex oligosaccharide chain formation.

S. Brul, J. Barranger, S. van Weely, 1986, Biochemical and biophysical research communications.

Orphan drug development across Europe: bottlenecks and opportunities.

H. Büller, H. Heemstra, R. D. de Vrueh, 2008, Drug discovery today.

The importance of international collaboration for rare diseases research: a European perspective

Christine M. Cutillo, C. Austin, A. Rath, 2017, Gene Therapy.

The facile detection of 1505G-->A in Gaucher patients with different phenotypes.

S. van Weely, J. Aerts, H. Michelakakis, 2001, Biochimica et biophysica acta.

Pathogenesis of lysosomal storage disorders as illustrated by Gaucher disease

C. Hollak, S. van Weely, J. Tager, 1993, Journal of Inherited Metabolic Disease.