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Related Experiment Videos

[Gaucher disease]

P Kaminsky1, N Belmatoug, T Billette de Villemeur

  • 1Service de Medecine J (PK), CHU de Nancy, Hopitaux de Brabois, Vandoeuvre.

Presse Medicale (Paris, France : 1983)
|January 27, 1996
PubMed
Summary
This summary is machine-generated.

Gaucher disease is an inherited sphingolipidosis caused by beta-glucosidase deficiency. Enzyme replacement therapy effectively treats Gaucher disease symptoms, improving blood parameters and organ size.

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Area of Science:

  • Genetics
  • Biochemistry
  • Rare Diseases