Phenotype, diagnosis, and treatment of Gaucher's disease

  title={Phenotype, diagnosis, and treatment of Gaucher's disease},
  author={G. Grabowski},
  journal={The Lancet},
  • G. Grabowski
  • Published 2008
  • Medicine
  • The Lancet
  • Gaucher's disease continues to be a model for applications of molecular medicine to clinical delineation, diagnosis, and treatment. Analyses of several thousand affected individuals have broadened the range of the pan-ethnic disease variants, provided initial genotype and phenotype correlations, and established the effectiveness of enzyme therapy. Large numbers of affected individuals worldwide have provided insight into the effect of disease variation related to ethnic origin, prognosis, and… CONTINUE READING
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