Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C
Wijburg, F A, Sedel, F, Pineda, M, Hendriksz, C J, Fahey, M, Walterfang, M, Patterson, M C, Wraith, J E, Kolb, S A
Published in Neurology (15.05.2012)
Published in Neurology (15.05.2012)
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Effectiveness of time-limited eye movement desensitization reprocessing therapy for parents of children with a rare life-limiting illness: a randomized clinical trial
Conijn, T, De Roos, C, Vreugdenhil, H. J. I, Van Dijk-Lokkart, E. M, Wijburg, F. A, Haverman, L
Published in Orphanet journal of rare diseases (02.09.2022)
Published in Orphanet journal of rare diseases (02.09.2022)
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Journal Article
Sanfilippo syndrome: A mini-review
Valstar, M. J., Ruijter, G. J. G., van Diggelen, O. P., Poorthuis, B. J., Wijburg, F. A.
Published in Journal of inherited metabolic disease (01.04.2008)
Published in Journal of inherited metabolic disease (01.04.2008)
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Journal Article
Conference Proceeding
Cannabidiol (Epidyolex®) for severe behavioral manifestations in patients with tuberous sclerosis complex, mucopolysaccharidosis type III and fragile X syndrome: protocol for a series of randomized, placebo-controlled N-of-1 trials
Müller, A R, den Hollander, B, van de Ven, P M, Roes, K C B, Geertjens, L, Bruining, H, van Karnebeek, C D M, Jansen, F E, de Wit, M C Y, Ten Hoopen, L W, Rietman, A B, Dierckx, B, Wijburg, F A, Boot, E, Brands, M M G, van Eeghen, A M
Published in BMC psychiatry (04.01.2024)
Published in BMC psychiatry (04.01.2024)
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Methylphenidate for attention-deficit/hyperactivity disorder in patients with Smith–Magenis syndrome: protocol for a series of N-of-1 trials
Müller, A. R, Zinkstok, J. R, Rommelse, N. N. J, van de Ven, P. M, Roes, K. C. B, Wijburg, F. A, de Rooij-Askes, E, Linders, C, Boot, E, van Eeghen, A. M
Published in Orphanet journal of rare diseases (08.09.2021)
Published in Orphanet journal of rare diseases (08.09.2021)
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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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Book Review
Early start of enzyme replacement therapy in pediatric male patients with classical Fabry disease is associated with attenuated disease progression
van der Veen, S.J., Körver, S., Hirsch, A., Hollak, C.E.M., Wijburg, F.A., Brands, M.M., Tøndel, C., van Kuilenburg, A.B.P., Langeveld, M.
Published in Molecular genetics and metabolism (01.02.2022)
Published in Molecular genetics and metabolism (01.02.2022)
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Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop
Spiekerkoetter, U, Lindner, M, Santer, R, Grotzke, M, Baumgartner, M. R, Boehles, H, Das, A, Haase, C, Hennermann, J. B, Karall, D, de Klerk, H, Knerr, I, Koch, H. G, Plecko, B, Röschinger, W, Schwab, K. O, Scheible, D, Wijburg, F. A, Zschocke, J, Mayatepek, E, Wendel, U
Published in Journal of inherited metabolic disease (01.08.2009)
Published in Journal of inherited metabolic disease (01.08.2009)
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Journal Article
A Systematic Review and Meta-Analysis of Statin Therapy in Children With Familial Hypercholesterolemia
Avis, H J, Vissers, M N, Stein, E A, Wijburg, F A, Trip, M D, Kastelein, J J.P, Hutten, B A
Published in Arteriosclerosis, thrombosis, and vascular biology (01.08.2007)
Published in Arteriosclerosis, thrombosis, and vascular biology (01.08.2007)
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Journal Article
Mucopolysaccharidosis type III (Sanfilippo Syndrome): emerging treatment strategies
de Ruijter, J, Valstar, M J, Wijburg, F A
Published in Current pharmaceutical biotechnology (01.06.2011)
Published in Current pharmaceutical biotechnology (01.06.2011)
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Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop
Spiekerkoetter, U, Lindner, M, Santer, R, Grotzke, M, Baumgartner, M. R, Boehles, H, Das, A, Haase, C, Hennermann, J. B, Karall, D, de Klerk, H, Knerr, I, Koch, H. G, Plecko, B, Röschinger, W, Schwab, K. O, Scheible, D, Wijburg, F. A, Zschocke, J, Mayatepek, E, Wendel, U
Published in Journal of inherited metabolic disease (01.08.2009)
Published in Journal of inherited metabolic disease (01.08.2009)
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Journal Article
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
Rapid screening for lipid storage disorders using biochemical markers. Expert center data and review of the literature
Voorink-Moret, M., Goorden, S.M.I., van Kuilenburg, A.B.P., Wijburg, F.A., Ghauharali-van der Vlugt, J.M.M., Beers-Stet, F.S., Zoetekouw, A., Kulik, W., Hollak, C.E.M., Vaz, F.M.
Published in Molecular genetics and metabolism (01.02.2018)
Published in Molecular genetics and metabolism (01.02.2018)
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Haematopoietic cell transplantation (HCT) in combination with enzyme replacement therapy (ERT) in patients with Hurler syndrome
COX-BRINKMAN, J, BOELENS, J.-J, WRAITH, J. E, O'MEARA, A, VEYS, P, WIJBURG, F. A, WULFFRAAT, N, WYNN, R. F
Published in Bone marrow transplantation (Basingstoke) (01.07.2006)
Published in Bone marrow transplantation (Basingstoke) (01.07.2006)
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Journal Article
Hearing loss in children with Fabry disease
Suntjens, E., Dreschler, W. A., Hess-Erga, J., Skrunes, R., Wijburg, F. A., Linthorst, G. E., Tøndel, C., Biegstraaten, M.
Published in Journal of inherited metabolic disease (01.09.2017)
Published in Journal of inherited metabolic disease (01.09.2017)
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Journal Article
Growth in patients with mucopolysaccharidosis type III (Sanfilippo disease)
de Ruijter, J., Broere, L., Mulder, M. F., van der Ploeg, A. T., Rubio-Gozalbo, M. E., Wortmann, S. B., Visser, G., Wijburg, F. A.
Published in Journal of inherited metabolic disease (01.05.2014)
Published in Journal of inherited metabolic disease (01.05.2014)
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Residual N-acetyl-α-glucosaminidase activity in fibroblasts correlates with disease severity in patients with mucopolysaccharidosis type IIIB
Meijer, O. L. M., Welling, L., Valstar, M. J., Hoefsloot, L. H., Brüggenwirth, H. T., van der Ploeg, A. T., Ruijter, G. J. G., Wagemans, T., Wijburg, F. A., van Vlies, N.
Published in Journal of inherited metabolic disease (01.05.2016)
Published in Journal of inherited metabolic disease (01.05.2016)
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Remarkable differences: the course of life of young adults with galactosaemia and PKU
Bosch, A. M, Maurice-Stam, H, Wijburg, F. A, Grootenhuis, M. A
Published in Journal of inherited metabolic disease (01.12.2009)
Published in Journal of inherited metabolic disease (01.12.2009)
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Journal Article
Pyruvate dehydrogenase kinase 4 expression is synergistically induced by AMP-activated protein kinase and fatty acids
Houten, S. M, Chegary, M, te Brinke, H, Wijnen, W. J, Glatz, J. F. C, Luiken, J. J. F. P, Wijburg, F. A, Wanders, R. J. A
Published in Cellular and molecular life sciences : CMLS (01.04.2009)
Published in Cellular and molecular life sciences : CMLS (01.04.2009)
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