Enzyme Augmentation in Moderate to Life-Threatening Gaucher Disease

  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},
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
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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

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