Wijburg FA - Search Results

1

Vasculopathy in patients with Fabry disease: current controversies and research directions.

Rombach SM, Twickler TB, Aerts JM, Linthorst GE, Wijburg FA, Hollak CE. Rombach SM, et al. Among authors: wijburg fa. Mol Genet Metab. 2010 Feb;99(2):99-108. doi: 10.1016/j.ymgme.2009.10.004. Epub 2009 Oct 13. Mol Genet Metab. 2010. PMID: 19900828

2

Short-term exogenous galactose supplementation does not influence rate of appearance of galactose in patients with classical galactosemia.

Huidekoper HH, Bosch AM, van der Crabben SN, Sauerwein HP, Ackermans MT, Wijburg FA. Huidekoper HH, et al. Among authors: wijburg fa. Mol Genet Metab. 2005 Mar;84(3):265-72. doi: 10.1016/j.ymgme.2004.09.013. Epub 2004 Nov 11. Mol Genet Metab. 2005. PMID: 15694176

3

Plasma chitotriosidase and CCL18: early biochemical surrogate markers in type B Niemann-Pick disease.

Brinkman J, Wijburg FA, Hollak CE, Groener JE, Verhoek M, Scheij S, Aten J, Boot RG, Aerts JM. Brinkman J, et al. Among authors: wijburg fa. J Inherit Metab Dis. 2005;28(1):13-20. doi: 10.1007/s10545-005-4416-9. J Inherit Metab Dis. 2005. PMID: 15702402

4

dif-1 and colt, both implicated in early embryonic development, encode carnitine acylcarnitine translocase.

Oey NA, Ijlst L, van Roermund CW, Wijburg FA, Wanders RJ. Oey NA, et al. Among authors: wijburg fa. Mol Genet Metab. 2005 Jun;85(2):121-4. doi: 10.1016/j.ymgme.2005.02.012. Epub 2005 Apr 1. Mol Genet Metab. 2005. PMID: 15896656

5

High incidence of hyperoxaluria in generalized peroxisomal disorders.

van Woerden CS, Groothoff JW, Wijburg FA, Duran M, Wanders RJ, Barth PG, Poll-The BT. van Woerden CS, et al. Among authors: wijburg fa. Mol Genet Metab. 2006 Aug;88(4):346-50. doi: 10.1016/j.ymgme.2006.03.004. Epub 2006 Apr 18. Mol Genet Metab. 2006. PMID: 16621644

6

Restricted upper extremity range of motion in mucopolysaccharidosis type I: no response to one year of enzyme replacement therapy.

Cox-Brinkman J, Smeulders MJ, Hollak CE, Wijburg FA. Cox-Brinkman J, et al. Among authors: wijburg fa. J Inherit Metab Dis. 2007 Feb;30(1):47-50. doi: 10.1007/s10545-006-0490-x. Epub 2006 Dec 11. J Inherit Metab Dis. 2007. PMID: 17160613

7

Three-dimensional face shape in Fabry disease.

Cox-Brinkman J, Vedder A, Hollak C, Richfield L, Mehta A, Orteu K, Wijburg F, Hammond P. Cox-Brinkman J, et al. Eur J Hum Genet. 2007 May;15(5):535-42. doi: 10.1038/sj.ejhg.5201798. Epub 2007 Feb 28. Eur J Hum Genet. 2007. PMID: 17327876

8

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

Cox-Brinkman J, Timmermans RG, Wijburg FA, Donker WE, van de Ploeg AT, Aerts JM, Hollak CE. Cox-Brinkman J, et al. Among authors: wijburg fa. J Inherit Metab Dis. 2007 Nov;30(6):984. doi: 10.1007/s10545-007-0686-8. Epub 2007 Sep 21. J Inherit Metab Dis. 2007. PMID: 17879143

9

Characterization of L-aminocarnitine, an inhibitor of fatty acid oxidation.

Chegary M, Te Brinke H, Doolaard M, Ijlst L, Wijburg FA, Wanders RJ, Houten SM. Chegary M, et al. Among authors: wijburg fa. Mol Genet Metab. 2008 Apr;93(4):403-10. doi: 10.1016/j.ymgme.2007.11.001. Epub 2008 Feb 20. Mol Genet Metab. 2008. PMID: 18077198

10

[Clinical reasoning and decision making in practice. A 9-year-old boy with isolated splenomegaly].

Hollak CE, Poorthuis BJ, Wijburg FA. Hollak CE, et al. Among authors: wijburg fa. Ned Tijdschr Geneeskd. 2008 Jan 12;152(2):116-7; author reply 117. Ned Tijdschr Geneeskd. 2008. PMID: 18265805 Dutch. No abstract available.

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