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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
Author / Creator:Conijn, T. ; De Roos, C. ; Vreugdenhil, H. J. I. ; Van Dijk-Lokkart, E. M. ; Wijburg, F. A. ; Haverman, L.
Publisher:London: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2022-09, Vol.17 (1), p.1-328, Article 328
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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 series of randomized, p...
Author / Creator: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.
Publisher:England: BioMed Central Ltd
Journal title:BMC psychiatry, 2024-01, Vol.24 (1), p.23-23, Article 23
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Sanfilippo syndrome: A mini-review
Author / Creator:Valstar, M. J. ; Ruijter, G. J. G. ; van Diggelen, O. P. ; Poorthuis, B. J. ; Wijburg, F. A.
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2008-04, Vol.31 (2), p.240-252
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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
Author / Creator: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.
Publisher:London: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2021-09, Vol.16 (1), p.1-380, Article 380
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Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop
Author / Creator: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
Publisher:Dordrecht: Dordrecht : Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2009-08, Vol.32 (4), p.498-505
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Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop
Author / Creator: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
Publisher:Dordrecht: Dordrecht : Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2009-08, Vol.32 (4), p.488-497
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Haematopoietic cell transplantation (HCT) in combination with enzyme replacement therapy (ERT) in patients with Hurler syndrome
Author / Creator:Cox-Brinkman, J ; Boelens, J-J ; Wraith, J E ; O'Meara, A ; Veys, P ; Wijburg, F A ; Wulffraat, N ; Wynn, R F
Publisher:Basingstoke: Nature Publishing Group
Journal title:Bone marrow transplantation (Basingstoke), 2006-07, Vol.38 (1), p.17-21
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Growth in patients with mucopolysaccharidosis type III (Sanfilippo disease)
Author / Creator: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.
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2014-05, Vol.37 (3), p.447-454
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Remarkable differences: the course of life of young adults with galactosaemia and PKU
Author / Creator:Bosch, A. M ; Maurice-Stam, H ; Wijburg, F. A ; Grootenhuis, M. A
Publisher:Dordrecht: Dordrecht : Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2009-12, Vol.32 (6), p.706-712
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Pyruvate dehydrogenase kinase 4 expression is synergistically induced by AMP-activated protein kinase and fatty acids
Author / Creator: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
Publisher:Basel: Basel : Birkhäuser-Verlag
Journal title:Cellular and molecular life sciences : CMLS, 2009-04, Vol.66 (7), p.1283-1294
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Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters
Author / Creator: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
Publisher:Dordrecht: Dordrecht : Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2009-10, Vol.32 (5), p.630-639
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Plasma chitotriosidase and CCL18: Early biochemical surrogate markers in type B Niemann‐Pick disease
Author / Creator:Brinkman, J. ; Wijburg, F. A. ; Hollak, C. E. ; Groener, J. E. ; Verhoek, M. ; Scheij, S. ; Aten, J. ; Boot, R. G. ; Aerts, J. M.
Publisher:Dordrecht: Kluwer Academic Publishers
Journal title:Journal of inherited metabolic disease, 2005-01, Vol.28 (1), p.13-20
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Disorders of mitochondrial fatty acyl‐CoA β‐oxidation
Author / Creator:Wanders, R. J. A. ; Vreken, P. ; Boer, M. E. J. ; Wijburg, F. A. ; Van Gennip, A. H. ; IJlst, L.
Publisher:Dordrecht: Kluwer Academic Publishers
Journal title:Journal of inherited metabolic disease, 1999-06, Vol.22 (4), p.442-487
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The course of life and quality of life of early and continuously treated Dutch patients with phenylketonuria
Author / Creator:Bosch, A. M. ; Tybout, W. ; Spronsen, F. J. ; Valk, H. W. ; Wijburg, F. A. ; Grootenhuis, M. A.
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2007-02, Vol.30 (1), p.29-34
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Potential efficacy of enzyme replacement and substrate reduction therapy in three siblings with Gaucher disease type III
Author / Creator: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
Publisher:Dordrecht: Dordrecht : Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2008-12, Vol.31 (6), p.745-752
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High tolerance for oral galactose in classical galactosaemia: dietary implications
Author / Creator:Bosch, A M ; Bakker, H D ; de B Wenniger-Prick, L J M ; Wanders, R J A ; Wijburg, F A
Publisher:London: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health
Journal title:Archives of disease in childhood, 2004-11, Vol.89 (11), p.1034-1036
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High activity of fatty acid oxidation enzymes in human placenta: Implications for fetal‐maternal disease
Author / Creator:Oey, N. A. ; Den Boer, M. E. J. ; Ruiter, J. P. N. ; Wanders, R. J. A. ; Duran, M. ; Waterham, H. R. ; Boer, K. ; der Post, J. A. M. ; Wijburg, F. A.
Publisher:Dordrecht: Kluwer Academic Publishers
Journal title:Journal of inherited metabolic disease, 2003-01, Vol.26 (4), p.385-392
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Home treatment with enzyme replacement therapy for mucopolysaccharidosis type I is feasible and safe
Author / Creator: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
Publisher:Dordrecht: Dordrecht : Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2007-11, Vol.30 (6), p.984-984
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Clinical features of galactokinase deficiency: A review of the literature
Author / Creator:BOSCH, A. M ; BAKKER, H. D ; VAN GENNIP, A. H ; VAN KEMPEN, J. V ; WANDERS, R. J. A ; WIJBURG, F. A
Publisher:Dordrecht: Springer
Journal title:Journal of inherited metabolic disease, 2002-12, Vol.25 (8), p.629-634
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Prolonged moderate‐intensity exercise without and with L‐carnitine supplementation in patients with MCAD deficiency
Author / Creator:Huidekoper, H. H. ; Schneider, J. ; Westphal, T. ; Vaz, F. M. ; Duran, M. ; Wijburg, F. A.
Publisher:Dordrecht: Kluwer Academic Publishers
Journal title:Journal of inherited metabolic disease, 2006-10, Vol.29 (5), p.631-636
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Showing 1 to 20 of 57 results

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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

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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 series of randomized, p...

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Sanfilippo syndrome: A mini-review

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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

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

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

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Haematopoietic cell transplantation (HCT) in combination with enzyme replacement therapy (ERT) in patients with Hurler syndrome

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Growth in patients with mucopolysaccharidosis type III (Sanfilippo disease)

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Remarkable differences: the course of life of young adults with galactosaemia and PKU

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

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Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters

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Plasma chitotriosidase and CCL18: Early biochemical surrogate markers in type B Niemann‐Pick disease

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Disorders of mitochondrial fatty acyl‐CoA β‐oxidation

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The course of life and quality of life of early and continuously treated Dutch patients with phenylketonuria

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Potential efficacy of enzyme replacement and substrate reduction therapy in three siblings with Gaucher disease type III

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High tolerance for oral galactose in classical galactosaemia: dietary implications

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High activity of fatty acid oxidation enzymes in human placenta: Implications for fetal‐maternal disease

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Home treatment with enzyme replacement therapy for mucopolysaccharidosis type I is feasible and safe

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Clinical features of galactokinase deficiency: A review of the literature

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Prolonged moderate‐intensity exercise without and with L‐carnitine supplementation in patients with MCAD deficiency

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