E-LIB Suche - Ergebnisse für: Wijburg, F. A.

1

Cannabidiol (Epidyolex®) for severe behavioral manifestatio..:

Müller, A. R. ; den Hollander, B. ; van de Ven, P. M....
BMC Psychiatry. 24 (2024) 1 - p. , 2024

Link: https://doi.org/10.1186/..

2

Early start of enzyme replacement therapy in pediatric male..:

van der Veen, S.J. ; Körver, S. ; Hirsch, A....
Molecular Genetics and Metabolism. 135 (2022) 2 - p. 163-169 , 2022

Link: https://doi.org/10.1016/..

3

Effectiveness of time-limited eye movement desensitization ..:

Conijn, T. ; De Roos, C. ; Vreugdenhil, H. J. I....
Orphanet Journal of Rare Diseases. 17 (2022) 1 - p. , 2022

Link: https://doi.org/10.1186/..

4

Methylphenidate for attention-deficit/hyperactivity disorde..:

Müller, A. R. ; Zinkstok, J. R. ; Rommelse, N. N. J....
Orphanet Journal of Rare Diseases. 16 (2021) 1 - p. , 2021

Link: https://doi.org/10.1186/..

5

Decreased plasma l-arginine levels in organic acidurias (MM..:

Molema, Femke ; Gleich, Florian ; Burgard, Peter...
Molecular Genetics and Metabolism. 126 (2019) 4 - p. 397-405 , 2019

Link: https://doi.org/10.1016/..

6

Rapid screening for lipid storage disorders using biochemic..:

Voorink-Moret, M. ; Goorden, S.M.I. ; van Kuilenburg, A.B.P....
Molecular Genetics and Metabolism. 123 (2018) 2 - p. 76-84 , 2018

Link: https://doi.org/10.1016/..

7

Hearing loss in children with Fabry disease:

Suntjens, E. ; Dreschler, W. A. ; Hess‐Erga, J....
Journal of Inherited Metabolic Disease. 40 (2017) 5 - p. 725-731 , 2017

Link: https://doi.org/10.1007/..

8

Processing of mutant N -acetyl-α-glucosaminidase in mucopol..:

Meijer, O.L.M. ; te Brinke, H. ; Ofman, R....
Molecular Genetics and Metabolism. 122 (2017) 1-2 - p. 100-106 , 2017

Link: https://doi.org/10.1016/..

9

Residual N‐acetyl‐α‐glucosaminidase activity in fibroblasts..:

Meijer, O. L. M. ; Welling, L. ; Valstar, M. J....
Journal of Inherited Metabolic Disease. 39 (2016) 3 - p. 437-445 , 2016

Link: https://doi.org/10.1007/..

10

Sleep disordered breathing in treated mucopolysaccharidosis..:

Pal, A.R. ; Langereis, E.J. ; Saif, M.A....
Molecular Genetics and Metabolism. 117 (2016) 2 - p. S89-S90 , 2016

Link: https://doi.org/10.1016/..

11

A revised home treatment algorithm for Fabry disease: Influ..:

Smid, B.E. ; Hoogendijk, S.L. ; Wijburg, F.A...
Molecular Genetics and Metabolism. 108 (2013) 2 - p. 132-137 , 2013

Link: https://doi.org/10.1016/..

12

Growth in patients with mucopolysaccharidosis type III (San..:

de Ruijter, J. ; Broere, L. ; Mulder, M. F....
Journal of Inherited Metabolic Disease. 37 (2013) 3 - p. 447-454 , 2013

Link: https://doi.org/10.1007/..

13

Development of a Suspicion Index to aid diagnosis of Nieman..:

Wijburg, F.A. ; Sedel, F. ; Pineda, M....
Neurology. 78 (2012) 20 - p. 1560-1567 , 2012

Link: https://doi.org/10.1212/..

14

Heparan sulfate derived disaccharides in plasma and total u..:

de Ruijter, J. ; IJlst, L. ; Kulik, W....
Journal of Inherited Metabolic Disease. 36 (2012) 2 - p. 271-279 , 2012

Link: https://doi.org/10.1007/..

15

MPS I: Monitoring Plasma And Urine Levels Of Dermatan And H..:

van der Tol, L. ; de Ru, M.H. ; van Vlies, N....
Molecular Genetics and Metabolism. 105 (2012) 2 - p. S62 , 2012

Link: https://doi.org/10.1016/..