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Plasma globotriaosylsphingosine: diagnostic value and relation to clinical manifestations of Fabry disease.
Rombach SM, Dekker N, Bouwman MG, Linthorst GE, Zwinderman AH, Wijburg FA, Kuiper S, Vd Bergh Weerman MA, Groener JE, Poorthuis BJ, Hollak CE, Aerts JM. Rombach SM, et al. Among authors: aerts jm. Biochim Biophys Acta. 2010 Sep;1802(9):741-8. doi: 10.1016/j.bbadis.2010.05.003. Epub 2010 May 13. Biochim Biophys Acta. 2010. PMID: 20471476 Free article.
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. 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.
Reduction of elevated plasma globotriaosylsphingosine in patients with classic Fabry disease following enzyme replacement therapy.
van Breemen MJ, Rombach SM, Dekker N, Poorthuis BJ, Linthorst GE, Zwinderman AH, Breunig F, Wanner C, Aerts JM, Hollak CE. van Breemen MJ, et al. Among authors: aerts jm. Biochim Biophys Acta. 2011 Jan;1812(1):70-6. doi: 10.1016/j.bbadis.2010.09.007. Epub 2010 Sep 17. Biochim Biophys Acta. 2011. PMID: 20851180 Free article. Clinical Trial.
Quantification of globotriaosylsphingosine in plasma and urine of fabry patients by stable isotope ultraperformance liquid chromatography-tandem mass spectrometry.
Gold H, Mirzaian M, Dekker N, Joao Ferraz M, Lugtenburg J, Codée JD, van der Marel GA, Overkleeft HS, Linthorst GE, Groener JE, Aerts JM, Poorthuis BJ. Gold H, et al. Among authors: aerts jm. Clin Chem. 2013 Mar;59(3):547-56. doi: 10.1373/clinchem.2012.192138. Epub 2012 Dec 12. Clin Chem. 2013. PMID: 23237761
Long-term effect of antibodies against infused alpha-galactosidase A in Fabry disease on plasma and urinary (lyso)Gb3 reduction and treatment outcome.
Rombach SM, Aerts JM, Poorthuis BJ, Groener JE, Donker-Koopman W, Hendriks E, Mirzaian M, Kuiper S, Wijburg FA, Hollak CE, Linthorst GE. Rombach SM, et al. Among authors: aerts jm. PLoS One. 2012;7(10):e47805. doi: 10.1371/journal.pone.0047805. Epub 2012 Oct 19. PLoS One. 2012. PMID: 23094092 Free PMC article.
451 results