Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease.

@article{AurayBlais2008UrinaryGE,
  title={Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease.},
  author={Christiane Auray-Blais and Denis Cyr and Aim{\'e} Ntwari and Michael L. West and Josanne Cox-Brinkman and Daniel Georges Bichet and Dominique P Germain and R Laframboise and Serge B. Melançon and Tracey Stockley and Joe T. R. Clarke and R{\'e}gen Drouin},
  journal={Molecular genetics and metabolism},
  year={2008},
  volume={93 3},
  pages={331-40}
}
Fabry disease is a complex, multisystemic and clinically heterogeneous disease, in which the urinary excretion of globotriaosylceramide (Gb3), the principal substrate of the deficient enzyme, alpha-galactosidase A, is more prominent than the increased concentrations of the lipid in the plasma of affected hemizygotes and heterozygotes. We have developed and validated a simultaneous analysis of Gb3 and creatinine in a 2.6-min run using filter paper discs saturated with urine and analyzed by LC-MS… CONTINUE READING

Citations

Publications citing this paper.
Showing 1-10 of 34 extracted citations

Similar Papers

Loading similar papers…