Development of a Suspicion Index to aid diagnosis of Niemann-Pick disease type C von WIJBURG, F. A, SEDEL, F, PINEDA, M, HENDRIKSZ, C. J, FAHEY, M, WALTERFANG, M, PATTERSON, M. C, WRAITH, J. E, KOLB, S. A

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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 von Conijn, T, De Roos, C, Vreugdenhil, H. J. I, Van Dijk-Lokkart, E. M, Wijburg, F. A, Haverman, L

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Cannabidiol (Epidyolex®) for severe behavioral manifestations in patients with tuberous sclerosis complex, mucopolysaccharidosis type III and fragile X syndrome: protocol for a ser... von 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

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Sanfilippo syndrome: A mini-review von Valstar, M. J., Ruijter, G. J. G., van Diggelen, O. P., Poorthuis, B. J., Wijburg, F. A.

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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 von 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

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Screening for Fabry disease in high-risk populations: a systematic review von Linthorst, G E, Bouwman, M G, Wijburg, F A, Aerts, J M F G, Poorthuis, B J H M, Hollak, C E M

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A Systematic Review and Meta-Analysis of Statin Therapy in Children With Familial Hypercholesterolemia von Avis, H J, Vissers, M N, Stein, E A, Wijburg, F A, Trip, M D, Kastelein, J J.P, Hutten, B A

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Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop von 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

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Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop von 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

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Haematopoietic cell transplantation (HCT) in combination with enzyme replacement therapy (ERT) in patients with Hurler syndrome von COX-BRINKMAN, J, BOELENS, J.-J, WRAITH, J. E, O'MEARA, A, VEYS, P, WIJBURG, F. A, WULFFRAAT, N, WYNN, R. F

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Growth in patients with mucopolysaccharidosis type III (Sanfilippo disease) von 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.

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Pyruvate dehydrogenase kinase 4 expression is synergistically induced by AMP-activated protein kinase and fatty acids von 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

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Remarkable differences: the course of life of young adults with galactosaemia and PKU von Bosch, A. M, Maurice-Stam, H, Wijburg, F. A, Grootenhuis, M. A

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Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters von Hörster, F, Garbade, S. F, Zwickler, T, Aydin, H. I, Bodamer, O. A, Burlina, A. B, Das, A. M, De Klerk, J. B. C, Dionisi-Vici, C, Geb, S, Gökcay, G, Guffon, N, Maier, E. M, Morava, E, Walter, J. H, Schwahn, B, Wijburg, F. A, Lindner, M, Grünewald, S, Baumgartner, M. R, Kölker, S

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Plasma chitotriosidase and CCL18: Early biochemical surrogate markers in type B Niemann‐Pick disease von Brinkman, J., Wijburg, F. A., Hollak, C. E., Groener, J. E., Verhoek, M., Scheij, S., Aten, J., Boot, R. G., Aerts, J. M.

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Early start of enzyme replacement therapy in pediatric male patients with classical Fabry disease is associated with attenuated disease progression von 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.

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Disorders of mitochondrial fatty acyl‐CoA β‐oxidation von Wanders, R. J. A., Vreken, P., Boer, M. E. J., Wijburg, F. A., Van Gennip, A. H., IJlst, L.

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Plasma globotriaosylsphingosine: Diagnostic value and relation to clinical manifestations of Fabry disease von 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.

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The course of life and quality of life of early and continuously treated Dutch patients with phenylketonuria von Bosch, A. M., Tybout, W., Spronsen, F. J., Valk, H. W., Wijburg, F. A., Grootenhuis, M. A.

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Early cerebral manifestations in a young female with Fabry disease with skewed X-inactivation von Bouwman, MG, Rombach, SM, Linthorst, GE, Poorthuis, BJHM, Lekanne Deprez, RH, Aerts, JMFG, Wijburg, FA

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