Enzyme Augmentation in Moderate to Life-Threatening Gaucher Disease

@article{Fallet1992EnzymeAI,
  title={Enzyme Augmentation in Moderate to Life-Threatening Gaucher Disease},
  author={Shari Fallet and Marie E. Grace and Arlyn Sibille and David S. Mendelson and Robert Shapiro and George Hermann and Gregory A. Grabowski},
  journal={Pediatric Research},
  year={1992},
  volume={31},
  pages={496-502}
}
ABSTRACT: Gaucher disease type 1 (GD type 1) is the most prevalent lysosomal storage disease and has its highest frequency in the Ashkenazi Jewish population. Deficiency of the enzyme, acid β-glucosidase, results in the deposition of glucocerebroside primarily in macrophages. The accumulation of such “Gaucher cells” leads to viscer-omegaly, hepatic and bone marrow dysfunction, hyper-splenism, and bony disease. Eleven GD type 1 patients, ages 4–52 y, with moderate to life-threatening… CONTINUE READING
19 Citations
25 References
Similar Papers

Citations

Publications citing this paper.
Showing 1-10 of 19 extracted citations

References

Publications referenced by this paper.
Showing 1-10 of 25 references

High freauencv of the Gaucher disease mutation at nucleotide 1226 amone . visceral measurements in all patients , the above fi ; ndingsdo ~ s h k e n & i Jews

  • RJ Desnick, GA Grabowski, A Zimran, T Gelbart, B Westwood, E Beutler
  • Am J Hum Genet
  • 1991

Similar Papers

Loading similar papers…