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Journal of Inherited Metabolic Disease|October 14, 2008
Potential efficacy of enzyme replacement and substrate reduction therapy in three siblings with Gaucher disease type IIIJ Cox-Brinkman, M J van Breemen, B T van Maldegem, et al.
Journal of Inherited Metabolic Disease|March 4, 2009
Different dose-dependent correction of MIP-1beta and chitotriosidase during initial enzyme replacement therapyM J van Breemen, M de Fost, M Maas, et al.
Blood Cells, Molecules & Diseases|November 9, 2010
A monozygotic twin pair with highly discordant Gaucher phenotypesM Biegstraaten, I N van Schaik, J M F G Aerts, et al.
Blood Cells, Molecules & Diseases|December 4, 2012
Taliglucerase alfa leads to favorable bone marrow responses in patients with type I Gaucher diseaseL van Dussen, A Zimran, E M Akkerman, et al.
The Journal of Clinical Endocrinology and Metabolism|May 6, 2011
Markers of bone turnover in Gaucher disease: modeling the evolution of bone diseaseL van Dussen, P Lips, V E Everts, et al.
Journal of Inherited Metabolic Disease|January 9, 2007
The Dutch Fabry cohort: diversity of clinical manifestations and Gb3 levelsA C Vedder, G E Linthorst, M J van Breemen, et al.
Clinical Genetics|July 22, 2014
Diagnostic dilemmas in Fabry disease: a case series study on GLA mutations of unknown clinical significanceB E Smid, C E M Hollak, B J H M Poorthuis, et al.
Atherosclerosis|October 10, 2008
Low HDL cholesterol levels in type I Gaucher disease do not lead to an increased risk of cardiovascular diseaseM de Fost, M Langeveld, R Franssen, et al.
Molecular Genetics and Metabolism|January 2, 2018
Rapid screening for lipid storage disorders using biochemical markers. Expert center data and review of the literatureM Voorink-Moret, S M I Goorden, A B P van Kuilenburg, et al.
Annals of Hematology|February 16, 2008
Immunoglobulin and free light chain abnormalities in Gaucher disease type I: data from an adult cohort of 63 patients and review of the literatureM de Fost, T A Out, F A de Wilde, et al.
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