Search Results - "Aerts, J. F. M. G."

Markers of Bone Turnover in Gaucher Disease: Modeling the Evolution of Bone Disease by 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

“…Context: Gaucher disease (GD) is a lysosomal storage disorder characterized by abundant presence of macrophages. Bone complications and low bone density are…”
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‘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 by Biegstraaten, M., van Schaik, I. N., Aerts, J. M. F. G., Hollak, C. E. M.

“…Summary Gaucher disease is a lysosomal storage disorder, which is classically divided into three types. Type I Gaucher disease is differentiated from types II…”
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The role of the iminosugar N‐butyldeoxynojirimycin (miglustat) in the management of type I (non‐neuronopathic) Gaucher disease: A position statement by Cox, T. M., Aerts, J. M. F. G., 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. M., Rolfs, A., Sa Miranda, M. C., Zimran, A.

“…N‐Butyldeoxynojirimycin (NB‐DNJ, miglustat ‘Zavesca’) is an orallyactive iminosugar which inhibits the biosynthesis of macromolecular substrates that…”
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Value of plasma chitotriosidase to assess non-neuronopathic Gaucher disease severity and progression in the era of enzyme replacement therapy by van Dussen, L., Hendriks, E. J., Groener, J. E. M., Boot, R. G., Hollak, C. E. M., Aerts, J. M. F. G.

“…Gaucher disease (GD) is caused by deficiency of the enzyme glucocerebrosidase catalysing the regular lysosomal degradation of glucosylceramide. In the common…”
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The Dutch Fabry cohort: Diversity of clinical manifestations and Gb3 levels by 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.

“…Summary Background: Fabry disease (OMIM 301500) is an X‐linked lysosomal storage disorder with characteristic vascular, renal, cardiac and cerebral…”
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Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring by 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.

“…Summary Enzyme replacement was introduced as treatment for non-neuronopathic Gaucher disease more than 15 years ago. To ensure the best use of this costly…”
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Sustained therapeutic effects of oral miglustat (Zavesca, N‐butyldeoxynojirimycin, OGT 918) in type I Gaucher disease by Elstein, D., Hollak, C., Aerts, J. M. F. G., Weely, S., Maas, M., Cox, T. M., Lachmann, R. H., Hrebicek, M., Platt, F. M., Butters, T. D., Dwek, R. A., Zimran, A.

“…It has been shown that treatment with miglustat (Zavesca, N‐butyldeoxynojirimycin, OGT 918) improves key clinical features of type I Gaucher disease after 1…”
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No Difference in Glycosphingolipid Metabolism and Mitochondrial Function in Glucocorticoid-Induced Insulin Resistance in Healthy Men by Brands, M, van Raalte, D. H, Ferraz, M. João, Sauerwein, H. P, Verhoeven, A. J, Aerts, J. M. F. G, Diamant, M, Serlie, M. J

“…Objective: Glucocorticoids (GCs) are well known to induce insulin resistance; however, mechanisms that cause the impairement of the insulin signaling pathway…”
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Immunoglobulin and free light chain abnormalities in Gaucher disease type I: data from an adult cohort of 63 patients and review of the literature 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.

“…Gaucher disease type I, the most common lysosomal storage disorder, is associated with immunoglobulin abnormalities. We studied the prevalence, risk factors,…”
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Manifestations of Fabry disease in placental tissue by Vedder, A. C., Strijland, A., Weerman, M. A. vd Bergh, Florquin, S., Aerts, J. M. F. G., Hollak, C. E. M.

“…Summary Fabry disease is an X‐linked lysosomal storage disorder caused by deficiency of the lysosomal enzyme α‐galactosidase A. Manifestations of the disease…”
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Impact of obesity on taste receptor expression in extra-oral tissues: emphasis on hypothalamus and brainstem by Herrera Moro Chao, D., Argmann, C., Van Eijk, M., Boot, R. G., Ottenhoff, R., Van Roomen, C., Foppen, E., Siljee, J. E., Unmehopa, U. A., Kalsbeek, A., Aerts, J. M. F. G.

“…Sweet perception promotes food intake, whereas that of bitterness is inhibitory. Surprisingly, the expression of sweet G protein-coupled taste receptor (GPCTR)…”
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Screening for Fabry disease in high-risk populations: a systematic review by Linthorst, G E, Bouwman, M G, Wijburg, F A, Aerts, J M F G, Poorthuis, B J H M, Hollak, C E M

“…Fabry disease (FD) may present with left ventricular hypertrophy (LVH), renal insufficiency or stroke. Several studies investigated FD prevalence in…”
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Potential efficacy of enzyme replacement and substrate reduction therapy in three siblings with Gaucher disease type III by 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

“…We report three siblings with Gaucher disease type III, born between 1992 and 2004. During this period, new developments resulted in different potential…”
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Home treatment with enzyme replacement therapy for mucopolysaccharidosis type I is feasible and safe by 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

“…Objective: Intravenous enzyme replacement therapy (ERT) with recombinant α-l-iduronidase may ameliorate the non-neurological symptoms in patients with…”
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Hypermetabolism in Gaucher disease type I is not associated with altered thyroid hormone levels by Langeveld, M., Endert, E., Wiersinga, W. M., Aerts, J. M. F. G., Hollak, C. E. M.

“…Summary Type I Gaucher disease (OMIM 231000) is an inherited storage disorder in which deficiency of the enzyme glucocerebrosidase (EC 32145) leads to…”
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Failure to detect Fabry patients in a cohort of prematurely atherosclerotic males by Vedder, A. C, Gerdes, V. E. A, Poorthuis, B. J. H. M, Helmond, M, Trip, M. D, Aerts, J. M. F. G, Hollak, C. E. M

“…Fabry disease, or α-galactosidase A (α-Gal A) deficiency, is a lysosomal storage disorder in which accumulation of globotriaosylceramide (Gb₃) is thought to be…”
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Low HDL cholesterol levels in type I Gaucher disease do not lead to an increased risk of cardiovascular disease by 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

“…Abstract Objective A low plasma high-density lipoprotein cholesterol (HDL-c) concentration is an important risk factor for the development of atherosclerotic…”
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Plasma globotriaosylsphingosine: Diagnostic value and relation to clinical manifestations of Fabry disease by 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.

“…Fabry disease is an X-linked lysosomal storage disorder due to deficiency of alpha-Galactosidase A, causing accumulation of globotriaosylceramide and elevated…”
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Inhibition of substrate synthesis as a strategy for glycolipid lysosomal storage disease therapy by Platt, F. M., Jeyakumar, M., Andersson, U., Priestman, D. A., Dwek, R. A., Butters, T. D., Cox, T. M., Lachmann, R. H., Hollak, C., Aerts, J. M. F. G., Van Weely, S., Hrebícek, M., Moyses, C., Gow, I., Elstein, D., Zimran, A.

“…The glycosphingolipid (GSL) lysosomal storage diseases are caused by mutations in the genes encoding the glycohydrolases that catabolize GSLs within lysosomes…”
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Vasculopathy in patients with Fabry disease: Current controversies and research directions by Rombach, S.M., Twickler, Th.B., Aerts, J.M.F.G., Linthorst, G.E., Wijburg, F.A., Hollak, C.E.M.

“…Fabry disease is an X-linked lysosomal storage disorder due to deficiency of the enzyme α-galactosidase A. The principal clinical manifestations of Fabry…”
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