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

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

↑ Gaucher PCE. De l’epithelioma primitif de la rate, hypertrophie idiopathique de la rate sans leucemie. Academic thesis, Paris, France, 1882.
↑ 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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[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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