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Ocular Signs Correlate Well with Disease Severity and Genotype in Fabry Disease

Ocular signs in Fabry disease have generally been regarded to be primarily of diagnostic value. We explored whether ocular findings, alone or in particular in combination with the α-galactosidase A gene mutation, have predictive value for disease severity. Data from the Fabry Outcome Survey (FOS), a...

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Publicat a:PLoS One
Autors principals: Pitz, Susanne, Kalkum, Gisela, Arash, Laila, Karabul, Nesrin, Sodi, Andrea, Larroque, Sylvain, Beck, Michael, Gal, Andreas
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2015
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4363518/
https://ncbi.nlm.nih.gov/pubmed/25781336
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0120814
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