
Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Niemann-Pick disease historical perspective
Introduction
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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.
References
References
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Christeen Henen, M.D. [2]
