Niemann-Pick disease historical perspective: Difference between revisions
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{{Niemann-Pick disease}} | {{Niemann-Pick disease}} | ||
{{CMG}}; {{AE}} {{CH}} | |||
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==Overview== | ==Overview== | ||
==Historical Perspective== | ==Historical Perspective== | ||
===Discovery=== | ===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). | 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== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
{{ | [[Category:Endocrinology]] | ||
{{ | [[Category:Neurology]] | ||
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Latest revision as of 16:32, 25 July 2016
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Niemann-Pick disease Microchapters |
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Diagnosis |
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Treatment |
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Case Studies |
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Niemann-Pick disease historical perspective On the Web |
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American Roentgen Ray Society Images of Niemann-Pick disease historical perspective |
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Risk calculators and risk factors for 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
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.