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
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
Short-Term Manipulation of Plasma Free Fatty Acids Does Not Change Skeletal Muscle Concentrations of Ceramide and Glucosylceramide in Lean and Overweight Subjects
Serlie, M. J, Meijer, A. J, Groener, J. E, Duran, M, Endert, E, Fliers, E, Aerts, J. M, Sauerwein, H. P
Published in The journal of clinical endocrinology and metabolism (01.04.2007)
Published in The journal of clinical endocrinology and metabolism (01.04.2007)
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Journal Article
Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: Disease spectrum and natural course in attenuated patients
Hollak, C.E.M., de Sonnaville, E.S.V., Cassiman, D., Linthorst, G.E., Groener, J.E., Morava, E., Wevers, R.A., Mannens, M., Aerts, J.M.F.G., Meersseman, W., Akkerman, E., Niezen-Koning, K.E., Mulder, M.F., Visser, G., Wijburg, F.A., Lefeber, D., Poorthuis, B.J.H.M.
Published in Molecular genetics and metabolism (01.11.2012)
Published in Molecular genetics and metabolism (01.11.2012)
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Journal Article
Plasma chitotriosidase and CCL18: Early biochemical surrogate markers in type B Niemann‐Pick disease
Brinkman, J., Wijburg, F. A., Hollak, C. E., Groener, J. E., Verhoek, M., Scheij, S., Aten, J., Boot, R. G., Aerts, J. M.
Published in Journal of inherited metabolic disease (01.01.2005)
Published in Journal of inherited metabolic disease (01.01.2005)
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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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Plasma globotriaosylsphingosine: Diagnostic value and relation to clinical manifestations of Fabry disease
Rombach, S.M., Dekker, N., Bouwman, M.G., Linthorst, G.E., Zwinderman, A.H., Wijburg, F.A., Kuiper, S., vd Bergh Weerman, M.A., Groener, J.E.M., Poorthuis, B.J., Hollak, C.E.M., Aerts, J.M.F.G.
Published in Biochimica et biophysica acta (01.09.2010)
Published in Biochimica et biophysica acta (01.09.2010)
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Journal Article
GLUT‐1 deficiency without epilepsy—an exceptional case
Overweg‐Plandsoen, W. C. G., Groener, J. E. M., Wang, D., Onkenhout, W., Brouwer, O. F., Bakker, H. D., De Vivo, D. C.
Published in Journal of inherited metabolic disease (01.01.2003)
Published in Journal of inherited metabolic disease (01.01.2003)
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Journal Article
Elevated plasma chitotriosidase activity in various lysosomal storage disorders
Guo, Y, He, W, Boer, A M, Wevers, R A, de Bruijn, A M, Groener, J E, Hollak, C E, Aerts, J M, Galjaard, H, van Diggelen, O P
Published in Journal of inherited metabolic disease (01.11.1995)
Published in Journal of inherited metabolic disease (01.11.1995)
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Journal Article
Gene symbol: GLA
Spanu, Costel, Lekanne dit Deprez, R H, Groener, J E M, Nita, C C
Published in Human genetics (01.04.2007)
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Published in Human genetics (01.04.2007)
Journal Article
Hypercholesterolaemia and hepatosplenomegaly: two manifestations of cholesteryl ester storage disease
Sjouke, B, van der Stappen, J W J, Groener, J E M, Pepping, A, Wevers, R A, Gouw, A, Dikkeschei, L D, Mijnhout, S, Hovingh, G K, Alleman, M A
Published in Netherlands journal of medicine (01.03.2015)
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Published in Netherlands journal of medicine (01.03.2015)
Journal Article
Plasma glucosylceramide and ceramide in type 1 Gaucher disease patients: Correlations with disease severity and response to therapeutic intervention
Groener, J.E.M., Poorthuis, B.J.H.M., Kuiper, S., Hollak, C.E.M., Aerts, J.M.F.G.
Published in Biochimica et biophysica acta (2008)
Published in Biochimica et biophysica acta (2008)
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Journal Article
Plasma chitotriosidase in male Fabry patients: A marker for monitoring lipid-laden macrophages and their correction by enzyme replacement therapy
Vedder, A.C., Cox-Brinkman, J., Hollak, C.E.M., Linthorst, G.E., Groener, J.E.M., Helmond, M.T.J., Scheij, S., Aerts, J.M.F.G.
Published in Molecular genetics and metabolism (01.11.2006)
Published in Molecular genetics and metabolism (01.11.2006)
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Journal Article
Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III
Raas-Rothschild, A, Bargal, R, Goldman, O, Ben-Asher, E, Groener, J E M, Toutain, A, Stemmer, E, Ben-Neriah, Z, Flusser, H, Beemer, F A, Penttinen, M, Olender, T, Rein, A J J T, Bach, G, Zeigler, M
Published in Journal of medical genetics (01.04.2004)
Published in Journal of medical genetics (01.04.2004)
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Early‐infantile type of galactosialidosis as a cause of heart failure and neonatal ascites
Claeys, M., Van Der Hoeven, M., Die‐Smulders>, C., Bakker, J. A., Offermans, J. P. M., Forget, P‐Ph, Groener, J. E. M., Spaapen, L. J. M.
Published in Journal of inherited metabolic disease (01.06.1999)
Published in Journal of inherited metabolic disease (01.06.1999)
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Journal Article
Induction of net mass lipid transfer reactions in plasma by wine consumption with dinner
Van Tol, A, Groener, J E, Scheek, L M, Van Gent, T, Veenstra, J, Van de Pol, H, Hendriks, H F, Schaafsma, G
Published in European journal of clinical investigation (01.06.1995)
Published in European journal of clinical investigation (01.06.1995)
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