Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease.

@article{Hollak1994MarkedEO,
  title={Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease.},
  author={Carla E. M. Hollak and Sonja van Weely and Marinus H. J. van Oers and Johannes Maria Aerts},
  journal={The Journal of clinical investigation},
  year={1994},
  volume={93 3},
  pages={1288-92}
}
Gaucher disease (GD; glucosylceramidosis) is caused by a deficient activity of the enzyme glucocerebrosidase (GC). Clinical manifestations are highly variable and cannot be predicted accurately on the basis of the properties of mutant GC. Analysis of secondary abnormalities, such as elevated plasma levels of some hydrolases, may help to increase insight into the complicated pathophysiology of the disease and could also provide useful disease markers. The recent availability of enzyme… CONTINUE READING
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