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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.
Manifestations of Fabry disease in placental tissue.
Vedder AC, Strijland A, vd Bergh Weerman MA, Florquin S, Aerts JM, Hollak CE. Vedder AC, et al. Among authors: aerts jm. J Inherit Metab Dis. 2006 Feb;29(1):106-11. doi: 10.1007/s10545-006-0196-0. J Inherit Metab Dis. 2006. PMID: 16601876
The Dutch Fabry cohort: diversity of clinical manifestations and Gb3 levels.
Vedder AC, Linthorst GE, van Breemen MJ, Groener JE, Bemelman FJ, Strijland A, Mannens MM, Aerts JM, Hollak CE. Vedder AC, et al. Among authors: aerts jm. J Inherit Metab Dis. 2007 Feb;30(1):68-78. doi: 10.1007/s10545-006-0484-8. Epub 2007 Jan 5. J Inherit Metab Dis. 2007. PMID: 17206462
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.
451 results