Is globotriaosylceramide a useful biomarker in Fabry disease?

@article{Young2005IsGA,
  title={Is globotriaosylceramide a useful biomarker in Fabry disease?},
  author={Elisabeth P. Young and Kathy K Mills and Peter Joseph Morris and Ashok Vellodi and Ponghyung Lee and Christoph Wanner and Bryan Winchester},
  journal={Acta paediatrica (Oslo, Norway : 1992). Supplement},
  year={2005},
  volume={94 447},
  pages={
          51-4; discussion 37-8
        }
}
AIM The aim of this study was to determine whether globotriaosylceramide (Gb3) is a useful biomarker in Fabry disease. METHODS The levels of Gb3 were measured in plasma and urine by tandem mass spectrometry in untreated hemizygotes and heterozygotes with Fabry disease and in healthy controls, and the levels were monitored in patients on treatment with enzyme replacement therapy (ERT). RESULTS Hemizygotes with classic Fabry disease showed elevated levels of Gb3 in both plasma and urine and… CONTINUE READING
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