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Gaucher disease: Progress and ongoing challenges.

Pramod K Mistry1, Grisel Lopez2, Raphael Schiffmann3

  • 1Yale University School of Medicine, Department of Internal Medicine, 333 Cedar Street, LMP 1080, P.O. Box 208019, New Haven, CT 06520-8019, United States.

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PubMed
Summary
This summary is machine-generated.

Decades of research on Gaucher disease, a glucocerebrosidase deficiency, have led to enzyme replacement therapy and identified gene mutations linked to parkinsonism.

Area of Science:

  • Biochemistry
  • Genetics
  • Lysosomal Storage Diseases

Background:

  • Gaucher disease is an inherited lysosomal storage disorder caused by glucocerebrosidase deficiency.
Keywords:
Dr. Roscoe BradyEnzyme replacement therapyGaucher diseaseGlucocerebrosidaseLysosomal storage disorderParkinsonism

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  • Significant advancements in understanding Gaucher disease have occurred over the past 60 years, particularly at the National Institutes of Health.