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Listar por tema "Fabry Disease"

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    • Fabry disease due to D313Y and novel GLA mutations 

      Koulousios K., Stylianou K., Pateinakis P., Zamanakou M., Loules G., Manou E., Kyriklidou P., Katsinas C., Ouzouni A., Kyriazis J., Speletas M., Germenis A.E. (2017)
      Objectives Our aim is to report four novel α-gal A gene (GLA) mutations resulting in Fabry disease (FD) and provide evidence of pathogenicity of the D313Y mutation regarding which contradictory data have been presented in ...

    • Systematic cascade screening in the Danish Fabry Disease Centre: 20 years of a national single-centre experience 

      Effraimidis G., Rasmussen Å.K., Dunoe M., Hasholt L.F., Wibrand F., Sorensen S.S., Lund A.M., Kober L., Bundgaard H., Yazdanfard P.D.W., Oturai P., Larsen V.A., de Abreu V.H.F., Enevoldsen L.H., Kristensen T., Svenstrup K., Bille M.B., Arif F., Mogensen M., Klokker M., Backer V., Kistorp C., Feldt-Rasmussen U. (2022)
      The lysosomal storage disorder Fabry disease is caused by deficient or absent activity of the GLA gene enzyme α-galactosidase A. In the present study we present the molecular and biochemical data of the Danish Fabry cohort ...