Value of plasma chitotriosidase to assess non-neuronopathic Gaucher disease severity and progression in the era of enzyme replacement therapy
van Dussen, L., Hendriks, E. J., Groener, J. E. M., Boot, R. G., Hollak, C. E. M., Aerts, J. M. F. G.
Published in Journal of inherited metabolic disease (01.11.2014)
Published in Journal of inherited metabolic disease (01.11.2014)
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Journal Article
Markers of Bone Turnover in Gaucher Disease: Modeling the Evolution of Bone Disease
van Dussen, L, 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
Published in The journal of clinical endocrinology and metabolism (01.07.2011)
Published in The journal of clinical endocrinology and metabolism (01.07.2011)
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Journal 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
Biegstraaten, M., van Schaik, I. N., Aerts, J. M. F. G., Hollak, C. E. M.
Published in Journal of inherited metabolic disease (01.06.2008)
Published in Journal of inherited metabolic disease (01.06.2008)
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Journal Article
The Dutch Fabry cohort: Diversity of clinical manifestations and Gb3 levels
Vedder, A. C., Linthorst, G. E., Breemen, M. J., Groener, J. E. M., Bemelman, F. J., Strijland, A., Mannens, M. M. A. M., Aerts, J. M. F. G., Hollak, C. E. M.
Published in Journal of inherited metabolic disease (01.02.2007)
Published in Journal of inherited metabolic disease (01.02.2007)
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Journal Article
Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring
Cox, T. M., Aerts, J. M. F. G., Belmatoug, N., Cappellini, M. D., vom Dahl, S., Goldblatt, J., Grabowski, G. A., Hollak, C. E. M., Hwu, P., Maas, M., Martins, A. M., Mistry, P. K., Pastores, G. M., Tylki-Szymanska, A., Yee, J., Weinreb, N.
Published in Journal of inherited metabolic disease (01.06.2008)
Published in Journal of inherited metabolic disease (01.06.2008)
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Journal Article
The quality of economic evaluations of ultra-orphan drugs in Europe - a systematic review
Schuller, Y, Hollak, C E M, Biegstraaten, M
Published in Orphanet journal of rare diseases (30.07.2015)
Published in Orphanet journal of rare diseases (30.07.2015)
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Journal 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
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.
Published in Annals of hematology (01.06.2008)
Published in Annals of hematology (01.06.2008)
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Journal Article
Screening for Fabry disease in high-risk populations: a systematic review
Linthorst, G E, Bouwman, M G, Wijburg, F A, Aerts, J M F G, Poorthuis, B J H M, Hollak, C E M
Published in Journal of Medical Genetics (01.04.2010)
Published in Journal of Medical Genetics (01.04.2010)
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Journal Article
Book Review
Potential efficacy of enzyme replacement and substrate reduction therapy in three siblings with Gaucher disease type III
Cox-Brinkman, J, van Breemen, M. J, van Maldegem, B. T, Bour, L, Donker, W. E, Hollak, C. E. M, Wijburg, F. A, Aerts, J. M. F. G
Published in Journal of inherited metabolic disease (01.12.2008)
Published in Journal of inherited metabolic disease (01.12.2008)
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Journal Article
Pain management strategies for neuropathic pain in Fabry disease--a systematic review
Schuller, Y, Linthorst, G E, Hollak, C E M, Van Schaik, I N, Biegstraaten, M
Published in BMC neurology (24.02.2016)
Published in BMC neurology (24.02.2016)
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Journal Article
Home treatment with enzyme replacement therapy for mucopolysaccharidosis type I is feasible and safe
Cox-Brinkman, J, Timmermans, R. G. M, Wijburg, F. A, Donker, W. E, van de Ploeg, A. T, Aerts, J. M. F. G, Hollak, C. E. M
Published in Journal of inherited metabolic disease (01.11.2007)
Published in Journal of inherited metabolic disease (01.11.2007)
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Journal Article
Clinically relevant therapeutic endpoints in type I Gaucher disease
Hollak, C. E. M., Maas, M., Aerts, J. M.
Published in Journal of inherited metabolic disease (01.01.2001)
Published in Journal of inherited metabolic disease (01.01.2001)
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Journal Article
Conference Proceeding
Proteinuria in early childhood due to familial LCAT deficiency caused by loss of a disulfide bond in lecithin:cholesterol acyl transferase
Holleboom, A.G, Kuivenhoven, J.A, van Olden, C.C, Peter, J, Schimmel, A.W, Levels, J.H, Valentijn, R.M, Vos, P, Defesche, J.C, Kastelein, J.J.P, Hovingh, G.K, Stroes, E.S.G, Hollak, C.E.M
Published in Atherosclerosis (01.05.2011)
Published in Atherosclerosis (01.05.2011)
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Journal Article
Manifestations of Fabry disease in placental tissue
Vedder, A. C., Strijland, A., Weerman, M. A. vd Bergh, Florquin, S., Aerts, J. M. F. G., Hollak, C. E. M.
Published in Journal of inherited metabolic disease (01.02.2006)
Published in Journal of inherited metabolic disease (01.02.2006)
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Journal Article
Low HDL cholesterol levels in type I Gaucher disease do not lead to an increased risk of cardiovascular disease
de Fost, M, Langeveld, M, Franssen, R, Hutten, B.A, Groener, J.E.M, de Groot, E, Mannens, M.M, Bikker, H, Aerts, J.M.F.G, Kastelein, J.J.P, Hollak, C.E.M
Published in Atherosclerosis (01.05.2009)
Published in Atherosclerosis (01.05.2009)
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Journal Article
A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance
van der Tol, L, Smid, B E, Poorthuis, B J H M, Biegstraaten, M, Deprez, R H Lekanne, Linthorst, G E, Hollak, C E M
Published in Journal of Medical Genetics (01.01.2014)
Published in Journal of Medical Genetics (01.01.2014)
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Journal Article
Book Review
Bone health in patients with inborn errors of metabolism
Langeveld, M., Hollak, C. E. M.
Published in Reviews in endocrine & metabolic disorders (01.03.2018)
Published in Reviews in endocrine & metabolic disorders (01.03.2018)
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Journal Article