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Gaucher's disease historical perspective

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor-In-Chief: Cafer Zorkun, M.D., Ph.D. [2]

Overview

Overview

Historical Perspective

Historical Perspective

Gaucher’s disease is named after the French doctor Philippe Gaucher who originally described it in 1882.

Philippe Gaucher described the disease in his doctoral thesis in 1882.[1] The biochemical basis for the disease would be elucidated in 1965 by Brady et al.[2]

References

References

  1. Gaucher PCE. De l’epithelioma primitif de la rate, hypertrophie idiopathique de la rate sans leucemie. Academic thesis, Paris, France, 1882.
  2. Brady RO, Kanfer JN, Shapiro D (1965). “Metabolism of glucocerebrosides. II. Evidence of an enzymatic deficiency in Gaucher’s disease”. Biochem. Biophys. Res. Commun. 18: 221–5. PMID 14282020.

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