Gaucher disease: pathological mechanisms and modern management.

  title={Gaucher disease: pathological mechanisms and modern management.},
  author={Marina Jmoudiak and Anthony H Futerman},
  journal={British journal of haematology},
  volume={129 2},
Gaucher disease, the most common lysosomal storage disorder, is caused by the defective activity of the lysosomal enzyme, acid-beta-glucosidase (GlcCerase), leading to accumulation of glucosylceramide (GlcCer), particularly in cells of the macrophage lineage. Nearly 200 mutations in GlcCerase have been described, but for the most part, genotype-phenotype correlations are weak, and little is known about the down-stream biochemical changes that occur upon GlcCer accumulation that result in cell… CONTINUE READING

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