Genotype, phenotype and disease severity reflected by serum LysoGb3 levels in patients with Fabry disease.

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作者： Albina,Nowak ^[1] ; Thomas P,Mechtler ^[2] ; Thorsten,Hornemann ^[3] ; Joanna,Gawinecka ^[4] ; Eva,Theswet ^[5] ; Max J,Hilz ^[6] ; David C,Kasper ^[7]

作者单位： Department of Internal Medicine, University Hospital Zurich and University of Zurich, Rämistrasse 100, 8091 Zürich, Switzerland. Electronic address: albina.nowak@usz.ch. ^[1] ARCHIMED Life Science, Leberstrasse 20, 1110 Vienna, Austria. Electronic address: t.mechtler@archimedlife.com. ^[2] Institute for Clinical Chemistry, University Hospital Zurich and University of Zurich, Rämistrasse 100, 8091 Zürich, Switzerland. Electronic address: thorsten.hornemann@usz.ch. ^[3] Institute for Clinical Chemistry, University Hospital Zurich and University of Zurich, Rämistrasse 100, 8091 Zürich, Switzerland. Electronic address: joanna.gawinecka@usz.ch. ^[4] Department of Internal Medicine, University Hospital Zurich and University of Zurich, Rämistrasse 100, 8091 Zürich, Switzerland. Electronic address: eva.theswet@uzh.ch. ^[5] University College London, Institute of Neurology, Queen Square, London WC1N 3BG, United Kingdom. Electronic address: m.hilz@ucl.ac.uk. ^[6] ARCHIMED Life Science, Leberstrasse 20, 1110 Vienna, Austria. Electronic address: d.kasper@archimedlife.com. ^[7]

关键词 Biomarker Disease severity Fabry disease GLA-mutation Genotype phenotype relation LysoGb3