Wijburg FA - Search Results

1

Experiences of parents and patients with the timing of Mucopolysaccharidosis type I (MPS I) diagnoses and its relevance to the ethical debate on newborn screening.

de Ru MH, Bouwman MG, Wijburg FA, van Zwieten MC. de Ru MH, et al. Among authors: wijburg fa. Mol Genet Metab. 2012 Nov;107(3):501-7. doi: 10.1016/j.ymgme.2012.08.008. Epub 2012 Aug 16. Mol Genet Metab. 2012. PMID: 22926196

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

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

4

Identification of the human mitochondrial FAD transporter and its potential role in multiple acyl-CoA dehydrogenase deficiency.

Spaan AN, Ijlst L, van Roermund CW, Wijburg FA, Wanders RJ, Waterham HR. Spaan AN, et al. Among authors: wijburg fa. Mol Genet Metab. 2005 Dec;86(4):441-7. doi: 10.1016/j.ymgme.2005.07.014. Epub 2005 Sep 13. Mol Genet Metab. 2005. PMID: 16165386

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

Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands.

Ruijter GJ, Valstar MJ, van de Kamp JM, van der Helm RM, Durand S, van Diggelen OP, Wevers RA, Poorthuis BJ, Pshezhetsky AV, Wijburg FA. Ruijter GJ, et al. Among authors: wijburg fa. Mol Genet Metab. 2008 Feb;93(2):104-11. doi: 10.1016/j.ymgme.2007.09.011. Epub 2007 Nov 19. Mol Genet Metab. 2008. PMID: 18024218

8

Screening for Fabry disease in high-risk populations: a systematic review.

Linthorst GE, Bouwman MG, Wijburg FA, Aerts JM, Poorthuis BJ, Hollak CE. Linthorst GE, et al. Among authors: wijburg fa. J Med Genet. 2010 Apr;47(4):217-22. doi: 10.1136/jmg.2009.072116. Epub 2009 Sep 24. J Med Genet. 2010. PMID: 19797197 Review.

9

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

10

Monitoring renal function in children with Fabry disease: comparisons of measured and creatinine-based estimated glomerular filtration rate.

Tøndel C, Ramaswami U, Aakre KM, Wijburg F, Bouwman M, Svarstad E. Tøndel C, et al. Nephrol Dial Transplant. 2010 May;25(5):1507-13. doi: 10.1093/ndt/gfp658. Epub 2009 Dec 27. Nephrol Dial Transplant. 2010. PMID: 20038520

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