Neuro-Quiz

• Literatur

• 1 Futerman AH, van Meer G. The cell biology of lysosomal storage disorders. Nat Rev Mol Cell Biol 2004; 5: 554-565
• 2 Sims K, Politei J, Banikazemi M et al. Stroke in Fabry disease frequently occurs before diagnosis and in the absence of other clinical events: natural history data from the Fabry Registry. Stroke 2009; 40: 788-794
• 3 Mayes JS, Scheerer JB, Sifers RN et al. Differential assay for lysosomal alpha-galactosidases in human tissues and its application to Fabry’s disease. Clin Chim Acta 1981; 112: 247-251
• 4 Linthorst GE, Vedder AC, Aerts JM et al. Screening for Fabry disease using whole blood spots fails to identify one-third of female carriers. Clin Chim Acta 2005; 353: 201-203
• 5 Roy S, Gaudin K, Germain DP et al. Optimisation of the separation of four major neutral glycosphingolipids: application to a rapid and simple detection of urinary globotriaosylceramide in Fabry disease. J Chromatogr B Analyt Technol Biomed Life Sci 2004; 805: 331-337
• 6 Vedder AC, Linthorst GE, Houge G et al. Treatment of Fabry disease: outcome of a comparative trial with agalsidase alfa or beta at a dose of 0.2 mg/kg. PLoS One 2007; 2: e598
• 7 Mehta A, Beck M, Elliott P et al. Enzyme replacement therapy with agalsidase alfa in patients with Fabry’s disease: an analysis of registry data. Lancet 2009; 374: 1986-1996