Cox-Brinkman J - Search Results

1

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

Cox-Brinkman J, Boelens JJ, Wraith JE, O'meara A, Veys P, Wijburg FA, Wulffraat N, Wynn RF. Cox-Brinkman J, et al. Bone Marrow Transplant. 2006 Jul;38(1):17-21. doi: 10.1038/sj.bmt.1705401. Epub 2006 May 22. Bone Marrow Transplant. 2006. PMID: 16715104 Clinical Trial.

2

Ultrastructural analysis of dermal fibroblasts in mucopolysaccharidosis type I: Effects of enzyme replacement therapy and hematopoietic cell transplantation.

Cox-Brinkman J, van den Bergh Weerman MA, Wijburg FA, Aerts JM, Florquin S, van der Lee JH, Hollak CE. Cox-Brinkman J, et al. Ultrastruct Pathol. 2010 May;34(3):126-32. doi: 10.3109/01913121003648485. Ultrastruct Pathol. 2010. PMID: 20455661

3

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. 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

4

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. 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

5

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

Cox-Brinkman J, van Breemen MJ, van Maldegem BT, Bour L, Donker WE, Hollak CE, Wijburg FA, Aerts JM. Cox-Brinkman J, et al. J Inherit Metab Dis. 2008 Dec;31(6):745-52. doi: 10.1007/s10545-008-0873-2. Epub 2008 Oct 15. J Inherit Metab Dis. 2008. PMID: 18850301

6

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

7

Elevated globotriaosylsphingosine is a hallmark of Fabry disease.

Aerts JM, Groener JE, Kuiper S, Donker-Koopman WE, Strijland A, Ottenhoff R, van Roomen C, Mirzaian M, Wijburg FA, Linthorst GE, Vedder AC, Rombach SM, Cox-Brinkman J, Somerharju P, Boot RG, Hollak CE, Brady RO, Poorthuis BJ. Aerts JM, et al. Among authors: cox brinkman j. Proc Natl Acad Sci U S A. 2008 Feb 26;105(8):2812-7. doi: 10.1073/pnas.0712309105. Epub 2008 Feb 19. Proc Natl Acad Sci U S A. 2008. PMID: 18287059 Free PMC article.

8

Plasma chitotriosidase in male Fabry patients: a marker for monitoring lipid-laden macrophages and their correction by enzyme replacement therapy.

Vedder AC, Cox-Brinkman J, Hollak CE, Linthorst GE, Groener JE, Helmond MT, Scheij S, Aerts JM. Vedder AC, et al. Among authors: cox brinkman j. Mol Genet Metab. 2006 Nov;89(3):239-44. doi: 10.1016/j.ymgme.2006.04.013. Epub 2006 Jun 9. Mol Genet Metab. 2006. PMID: 16765076 Clinical Trial.

9

Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies.

Aerts JM, Kallemeijn WW, Wegdam W, Joao Ferraz M, van Breemen MJ, Dekker N, Kramer G, Poorthuis BJ, Groener JE, Cox-Brinkman J, Rombach SM, Hollak CE, Linthorst GE, Witte MD, Gold H, van der Marel GA, Overkleeft HS, Boot RG. Aerts JM, et al. Among authors: cox brinkman j. J Inherit Metab Dis. 2011 Jun;34(3):605-19. doi: 10.1007/s10545-011-9308-6. Epub 2011 Mar 29. J Inherit Metab Dis. 2011. PMID: 21445610 Free PMC article. Review.

10

Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease.

Auray-Blais C, Cyr D, Ntwari A, West ML, Cox-Brinkman J, Bichet DG, Germain DP, Laframboise R, Melançon SB, Stockley T, Clarke JT, Drouin R. Auray-Blais C, et al. Among authors: cox brinkman j. Mol Genet Metab. 2008 Mar;93(3):331-40. doi: 10.1016/j.ymgme.2007.10.001. Epub 2007 Nov 26. Mol Genet Metab. 2008. PMID: 18023222

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