About: A nationwide blood spot screening study for Fabry disease in the Czech republic haemodialysis patient population     Goto   Sponge   NotDistinct   Permalink

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  • Fabry disease (FD) is a genetic disorder characterized by accumulation of trihexosylceramide in lysosomes of various tissues leading to multiorgan manifestations, including progressive renal disease. Previous screening studies have shown that a non-neglectable proportion of haemodialysis(HD) patients have unsuspected FD. An extensive FD screening study, the largest to date, has been conducted in HD patients in Czech Republic. We aimed to uncover previously undiagnosed FD patients, to enable them to benefit from cause-specific therapeutic intervention with enzyme replacement therapy (ERT).
  • Fabry disease (FD) is a genetic disorder characterized by accumulation of trihexosylceramide in lysosomes of various tissues leading to multiorgan manifestations, including progressive renal disease. Previous screening studies have shown that a non-neglectable proportion of haemodialysis(HD) patients have unsuspected FD. An extensive FD screening study, the largest to date, has been conducted in HD patients in Czech Republic. We aimed to uncover previously undiagnosed FD patients, to enable them to benefit from cause-specific therapeutic intervention with enzyme replacement therapy (ERT). (en)
  • Fabry disease (FD) is a genetic disorder characterized by accumulation of trihexosylceramide in lysosomes of various tissues leading to multiorgan manifestations, including progressive renal disease. Previous screening studies have shown that a non-neglectable proportion of haemodialysis(HD) patients have unsuspected FD. An extensive FD screening study, the largest to date, has been conducted in HD patients in Czech Republic. We aimed to uncover previously undiagnosed FD patients, to enable them to benefit from cause-specific therapeutic intervention with enzyme replacement therapy (ERT). (cs)
Title
  • A nationwide blood spot screening study for Fabry disease in the Czech republic haemodialysis patient population
  • A nationwide blood spot screening study for Fabry disease in the Czech republic haemodialysis patient population (en)
  • A nationwide blood spot screening study for Fabry disease in the Czech republic haemodialysis patient population (cs)
skos:prefLabel
  • A nationwide blood spot screening study for Fabry disease in the Czech republic haemodialysis patient population
  • A nationwide blood spot screening study for Fabry disease in the Czech republic haemodialysis patient population (en)
  • A nationwide blood spot screening study for Fabry disease in the Czech republic haemodialysis patient population (cs)
skos:notation
  • RIV/65269705:_____/07:#0000388!RIV09-MZ0-65269705
http://linked.open...avai/riv/aktivita
http://linked.open...avai/riv/aktivity
  • V, Z(MSM0021620806)
http://linked.open...iv/cisloPeriodika
  • 1
http://linked.open...vai/riv/dodaniDat
http://linked.open...aciTvurceVysledku
http://linked.open.../riv/druhVysledku
http://linked.open...iv/duvernostUdaju
http://linked.open...titaPredkladatele
http://linked.open...dnocenehoVysledku
  • 407969
http://linked.open...ai/riv/idVysledku
  • RIV/65269705:_____/07:#0000388
http://linked.open...riv/jazykVysledku
http://linked.open.../riv/klicovaSlova
  • enzymes (en)
http://linked.open.../riv/klicoveSlovo
http://linked.open...odStatuVydavatele
  • GB - Spojené království Velké Británie a Severního Irska
http://linked.open...ontrolniKodProRIV
  • [0D1317CAC765]
http://linked.open...i/riv/nazevZdroje
  • Nephrology Dialysis Transplantation
http://linked.open...in/vavai/riv/obor
http://linked.open...ichTvurcuVysledku
http://linked.open...cetTvurcuVysledku
http://linked.open...UplatneniVysledku
http://linked.open...v/svazekPeriodika
  • 22
http://linked.open...iv/tvurceVysledku
  • Merta, M.
  • Smržová, J.
http://linked.open...n/vavai/riv/zamer
issn
  • 0931-0509
number of pages
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