Search Results - "Hollak, C E M"

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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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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Evaluation of an imaging biomarker, Dixon quantitative chemical shift imaging, in Gaucher disease: lessons learned by van Dussen, L., Akkerman, E. M., Hollak, C. E. M., Nederveen, A. J., Maas, M.

“…Gaucher disease (GD) is the first lysosomal storage disorder for which specific therapy became available. The infiltration of bone marrow by storage cells…”
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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 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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The quality of economic evaluations of ultra-orphan drugs in Europe - a systematic review by Schuller, Y, Hollak, C E M, Biegstraaten, M

“…An orphan disease is defined in the EU as a disorder affecting less than 1 in 2 000 individuals. The concept of ultra-orphan has been proposed for diseases…”
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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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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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Pain management strategies for neuropathic pain in Fabry disease--a systematic review by Schuller, Y, Linthorst, G E, Hollak, C E M, Van Schaik, I N, Biegstraaten, M

“…Neuropathic pain is one of the key features of (classical) Fabry disease (FD). No randomized clinical trials comparing effectiveness of different pain…”
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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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Clinically relevant therapeutic endpoints in type I Gaucher disease by Hollak, C. E. M., Maas, M., Aerts, J. M.

“…The introduction of enzyme supplementation therapy for Gaucherdisease has had a great impact on the lives of many patients. Organomegaly, cytopenia and bone…”
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Expanding the clinical spectrum of cerebrotendinous xanthomatosis: Implications for newborn screening, follow‐up and treatment by Hollak, C. E. M.

“…Linked to: B. M. L. Stelten et al. J Intern Med 2021; https://doi.org/10.1111/joim.13277…”
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Proteinuria in early childhood due to familial LCAT deficiency caused by loss of a disulfide bond in lecithin:cholesterol acyl transferase by 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

“…Abstract Introduction Familial lecithin:cholesterol acyltransferase (LCAT) deficiency (FLD) is a rare recessive disorder of cholesterol metabolism…”
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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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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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A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance by 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

“…Screening for Fabry disease (FD) reveals a high prevalence of individuals with α-galactosidase A (GLA) genetic variants of unknown significance (GVUS). These…”
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