Fabry disease: recent advances in enzyme replacement therapy.

@article{Germain2002FabryDR,
  title={Fabry disease: recent advances in enzyme replacement therapy.},
  author={Dominique Paul Germain},
  journal={Expert opinion on investigational drugs},
  year={2002},
  volume={11 10},
  pages={
          1467-76
        }
}
Fabry disease is an X-linked inherited disorder of metabolism due to mutations in the gene encoding alpha-galactosidase A, a lysosomal enzyme. The enzymatic defect leads to the systemic accumulation of incompletely metabolised glycosphingolipids, primarily globotriaosylceramide, in plasma and lysosomes within various tissues. Inability to prevent the progression of glycosphingolipid deposition causes significant morbidity, associated with significant impact on quality of life and diminished… CONTINUE READING
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