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Clinically relevant therapeutic endpoints in type I Gaucher disease.
Published in:
Journal of Inherited Metabolic Disease, 2001, v. 24, p. 97, doi. 10.1023/A:1012492429191
By:
- Hollak, C.;
- Maas, M.;
- Aerts, J.
Publication type:
Article
Inhibition of substrate synthesis as a strategy for glycolipid lysosomal storage disease therapy.
Published in:
Journal of Inherited Metabolic Disease, 2001, v. 24, n. 2, p. 275, doi. 10.1023/A:1010335505357
By:
- Platt, F.;
- Jeyakumar, M.;
- Andersson, U.;
- Priestman, D.;
- Dwek, R.;
- Butters, T.;
- Cox, T.;
- Lachmann, R.;
- Hollak, C.;
- Aerts, J.;
- Van Weely, S.;
- Hrebícek, M.;
- Moyses, C.;
- Gow, I.;
- Elstein, D.;
- Zimran, A.
Publication type:
Article
The natural course of Gaucher disease in The Netherlands: Implications for monitoring of disease manifestations.
Published in:
Journal of Inherited Metabolic Disease, 2000, v. 23, n. 1, p. 77, doi. 10.1023/A:1005655031239
By:
- Maaswinkel-Mooij, P.;
- Hollak, C.;
- Van Eysden-Plaisier, M.;
- Prins, M.;
- Aerts, H.;
- Pöll, R.
Publication type:
Article
Oligosaccharide excretion in adult Gaucher disease.
Published in:
Journal of Inherited Metabolic Disease, 1998, v. 21, n. 1, p. 49, doi. 10.1023/A:1005311430722
By:
- de Jong, J.;
- Aerts, J.;
- van Weely, S.;
- Hollak, C.;
- van Pelt, J.;
- van Woerkom, L.;
- Liebrand-van Sambeek, M.;
- Wevers, R.
Publication type:
Article
The quality of economic evaluations of ultraorphan drugs in Europe - a systematic review.
Published in:
Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0305-y
By:
- Schuller, Y.;
- Hollak, C. E. M.;
- Biegstraaten, M.
Publication type:
Article
The quality of economic evaluations of ultra-orphan drugs in Europe - a systematic review.
Published in:
2015
By:
- Schuller, Y;
- Hollak, C E M;
- Biegstraaten, M
Publication type:
journal article
Markers of bone turnover in Gaucher disease: modeling the evolution of bone disease.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2011, v. 96, n. 7, p. 2194, doi. 10.1210/jc.2011-0162
By:
- Dussen, L. van;
- Lips, P.;
- Everts, V. E.;
- Bravenboer, N.;
- Jansen, I. D. C.;
- Groener, J. E. M.;
- Maas, M.;
- Blokland, J. A. K.;
- Aerts, J. M. F. G.;
- Hollak, C. E. M.
Publication type:
Article
Bone health in patients with inborn errors of metabolism.
Published in:
Reviews in Endocrine & Metabolic Disorders, 2018, v. 19, n. 1, p. 81, doi. 10.1007/s11154-018-9460-5
By:
- Langeveld, M.;
- Hollak, C. E. M.
Publication type:
Article
Factors Contributing to the Efficacy-Effectiveness Gap in the Case of Orphan Drugs for Metabolic Diseases.
Published in:
Drugs, 2017, v. 77, n. 13, p. 1461, doi. 10.1007/s40265-017-0788-z
By:
- Schuller, Y.;
- Hollak, C.;
- Gispen-de Wied, C.;
- Stoyanova-Beninska, V.;
- Biegstraaten, M.
Publication type:
Article
Erratum to: Pain management strategies for neuropathic pain in Fabry disease - a systematic review.
Published in:
2016
By:
- Schuller, Y;
- Linthorst, G E;
- Hollak, C E M;
- Van Schaik, I N;
- Biegstraaten, M
Publication type:
corrected article
Pain management strategies for neuropathic pain in Fabry disease--a systematic review.
Published in:
2016
By:
- Schuller, Y.;
- Linthorst, G. E.;
- Hollak, C. E. M.;
- Van Schaik, I. N.;
- Biegstraaten, M.
Publication type:
journal article
Evaluation of miglustat as maintenance therapy after enzyme therapy on adults with stable type 1 Gaucher disease: a prospective, open-label non-inferiority study.
Published in:
Current Medical Literature: Lysosomal Storage Disease, 2013, v. 11, n. 2, p. 49
By:
- Cox, T. M.;
- Amato, D.;
- Hollak, C. E.
Publication type:
Article
Immunoglobulin and free light chain abnormalities in Gaucher disease type I: data from an adult cohort of 63 patients and review of the literature.
Published in:
2008
By:
- de Fost, M.;
- Out, T. A.;
- de Wilde, F. A.;
- Tjin, E. P. M.;
- Pals, S. T.;
- van Oers, M. H. J.;
- Boot, R. G.;
- Aerts, J. F. M. G.;
- Maas, M.;
- vom Dahl, S.;
- Hollak, C. E. M.
Publication type:
journal article
Food or medicine? A European regulatory perspective on nutritional therapy products to treat inborn errors of metabolism.
Published in:
Journal of Inherited Metabolic Disease, 2023, v. 46, n. 6, p. 1017, doi. 10.1002/jimd.12677
By:
- Stolwijk, N. N.;
- Bosch, A. M.;
- Bouwhuis, N.;
- Häberle, J.;
- van Karnebeek, C.;
- van Spronsen, F. J.;
- Langeveld, M.;
- Hollak, C. E. M.
Publication type:
Article
Evaluation of an imaging biomarker, Dixon quantitative chemical shift imaging, in Gaucher disease: lessons learned.
Published in:
Journal of Inherited Metabolic Disease, 2014, v. 37, n. 6, p. 1003, doi. 10.1007/s10545-014-9726-3
By:
- Dussen, L.;
- Akkerman, E.;
- Hollak, C.;
- Nederveen, A.;
- Maas, M.
Publication type:
Article
Value of plasma chitotriosidase to assess non-neuronopathic Gaucher disease severity and progression in the era of enzyme replacement therapy.
Published in:
Journal of Inherited Metabolic Disease, 2014, v. 37, n. 6, p. 991, doi. 10.1007/s10545-014-9711-x
By:
- Dussen, L.;
- Hendriks, E.;
- Groener, J.;
- Boot, R.;
- Hollak, C.;
- Aerts, J.
Publication type:
Article
Different dose-dependent correction of MIP-1β and chitotriosidase during initial enzyme replacement therapy.
Published in:
Journal of Inherited Metabolic Disease, 2009, v. 32, n. 2, p. 274, doi. 10.1007/s10545-009-1064-5
By:
- Breemen, M.;
- Fost, M.;
- Maas, M.;
- Wiersma, M.;
- Hollak, C.;
- Poll, L.;
- Dahl, S.;
- Boot, R.;
- Aerts, J.
Publication type:
Article
Potential efficacy of enzyme replacement and substrate reduction therapy in three siblings with Gaucher disease type III.
Published in:
Journal of Inherited Metabolic Disease, 2008, v. 31, n. 6, p. 745, doi. 10.1007/s10545-008-0873-2
By:
- Cox-Brinkman, J.;
- Breemen, M.;
- Maldegem, B.;
- Bour, L.;
- Donker, W.;
- Hollak, C.;
- Wijburg, F.;
- Aerts, J.
Publication type:
Article
Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring.
Published in:
Journal of Inherited Metabolic Disease, 2008, v. 31, n. 3, p. 319, doi. 10.1007/s10545-008-0779-z
By:
- Cox, T.;
- Aerts, J.;
- Belmatoug, N.;
- Cappellini, M.;
- Dahl, S.;
- Goldblatt, J.;
- Grabowski, G.;
- Hollak, C.;
- Hwu, P.;
- Maas, M.;
- Martins, A.;
- Mistry, P.;
- Pastores, G.;
- Tylki-Szymanska, A.;
- Yee, J.;
- Weinreb, N.
Publication type:
Article
‘Non-neuronopathic’ Gaucher disease reconsidered. Prevalence of neurological manifestations in a Dutch cohort of type I Gaucher disease patients and a systematic review of the literature.
Published in:
Journal of Inherited Metabolic Disease, 2008, v. 31, n. 3, p. 337, doi. 10.1007/s10545-008-0832-y
By:
- Biegstraaten, M.;
- Schaik, I.;
- Aerts, J.;
- Hollak, C.
Publication type:
Article
Hypermetabolism in Gaucher disease type I is not associated with altered thyroid hormone levels.
Published in:
2007
By:
- Langeveld, M.;
- Endert, E.;
- Wiersinga, W.;
- Aerts, J.;
- Hollak, C.
Publication type:
Report
Home treatment with enzyme replacement therapy for mucopolysaccharidosis type I is feasible and safe.
Published in:
Journal of Inherited Metabolic Disease, 2007, v. 30, n. 6, p. 984, doi. 10.1007/s10545-007-0686-8
By:
- Cox-Brinkman, J.;
- Timmermans, R.;
- Wijburg, F.;
- Donker, W.;
- Ploeg, A.;
- Aerts, J.;
- Hollak, C.
Publication type:
Article
Failure to detect Fabry patients in a cohort of prematurely atherosclerotic males.
Published in:
2007
By:
- Vedder, A.;
- Gerdes, V.;
- Poorthuis, B.;
- Helmond, M.;
- Trip, M.;
- Aerts, J.;
- Hollak, C.
Publication type:
Report
Restricted upper extremity range of motion in mucopolysaccharidosis type I: no response to one year of enzyme replacement therapy.
Published in:
Journal of Inherited Metabolic Disease, 2007, v. 30, n. 1, p. 47, doi. 10.1007/s10545-006-0490-x
By:
- Cox-Brinkman, J.;
- Smeulders, M.;
- Hollak, C.;
- Wijburg, F.
Publication type:
Article
The Dutch Fabry cohort: Diversity of clinical manifestations and Gb<sub>3</sub> levels.
Published in:
Journal of Inherited Metabolic Disease, 2007, v. 30, n. 1, p. 68, doi. 10.1007/s10545-006-0484-8
By:
- Vedder, A.;
- Linthorst, G.;
- Breemen, M.;
- Groener, J.;
- Bemelman, F.;
- Strijland, A.;
- Mannens, M.;
- Aerts, J.;
- Hollak, C.
Publication type:
Article
Manifestations of Fabry disease in placental tissue.
Published in:
Journal of Inherited Metabolic Disease, 2006, v. 29, n. 1, p. 106, doi. 10.1007/s10545-006-0196-0
By:
- Vedder, A.;
- Strijland, A.;
- Weerman, M.;
- Florquin, S.;
- Aerts, J.;
- Hollak, C.
Publication type:
Article
Plasma chitotriosidase and CCL18: Early biochemical surrogate markers in type B Niemann-Pick disease.
Published in:
Journal of Inherited Metabolic Disease, 2005, v. 28, n. 1, p. 13, doi. 10.1007/s10545-005-4416-9
By:
- Brinkman, J.;
- Wijburg, F.;
- Hollak, C.;
- Groener, J.;
- Verhoek, M.;
- Scheij, S.;
- Aten, J.;
- Boot, R.;
- Aerts, J.
Publication type:
Article
Sustained therapeutic effects of oral miglustat (Zavesca, N-butyldeoxynojirimycin, OGT 918) in type I Gaucher disease.
Published in:
Journal of Inherited Metabolic Disease, 2004, v. 27, n. 6, p. 757, doi. 10.1023/B:BOLI.0000045756.54006.17
By:
- Elstein, D.;
- Hollak, C.;
- Aerts, J.;
- van Weely, S.;
- Maas, M.;
- Cox, T.;
- Lachmann, R.;
- Hrebicek, M.;
- Platt, F.;
- Butters, T.;
- Dwek, R.;
- Zimran, A.
Publication type:
Article
The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: A position statement.
Published in:
Journal of Inherited Metabolic Disease, 2003, v. 26, n. 6, p. 513, doi. 10.1023/A:1025902113005
By:
- Cox, T.;
- Aerts, J.;
- Andria, G.;
- Beck, M.;
- Belmatoug, N.;
- Bembi, B.;
- Chertkoff, R.;
- Vom Dahl, S.;
- Elstein, D.;
- Erikson, A.;
- Giralt, M.;
- Heitner, R.;
- Hollak, C.;
- Hrebicek, M.;
- Lewis, S.;
- Mehta, A.;
- Pastores, G.;
- Rolfs, A.;
- Sa Miranda, M.;
- Zimran, A.
Publication type:
Article
Angiokeratomas, Fabry disease and enzyme replacement therapy: still a challenge: reply from authors.
Published in:
2005
By:
- Linthorst, G.E.;
- Hollak, C. E. M.
Publication type:
Letter

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