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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
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: wijburg fa. 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.
Dried blood spot analysis: an easy and reliable tool to monitor the biochemical effect of hematopoietic stem cell transplantation in hurler syndrome patients.
Aldenhoven M, de Koning TJ, Verheijen FW, Prinsen BH, Wijburg FA, van der Ploeg AT, de Sain-van der Velden MG, Boelens J. Aldenhoven M, et al. Among authors: wijburg fa. Biol Blood Marrow Transplant. 2010 May;16(5):701-4. doi: 10.1016/j.bbmt.2010.01.006. Epub 2010 Jan 21. Biol Blood Marrow Transplant. 2010. PMID: 20096360 Free article.
293 results