Niemann-Pick disease historical perspective
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Christeen Henen, M.D. [2]
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Overview
Overview
Historical Perspective
Historical Perspective
Discovery
In 1914, A. Niemann reported an 18-month-old girl presented with progressive mental and motor deterioration with hepatosplenomegaly suggestive of type 2 Gaucher disease. In 1927, Ludwig Pick described the clinicopathologic features which helped differentiate these two disorders. In 1966, the defective enzyme was first identified by R. O. Brady at the National Institutes of Health (NIH). At 1961, A.Crocker proposed the classification adding type C and D.
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