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==Overview== | ==Overview== | ||
'''Niemann-Pick disease''' is | '''Niemann-Pick disease (NPD)''' is a group of [[autosomal recessive]] disorders that are classified into two broad types. Types A and B NPD are [[lysosomal storage disease]]s due to [[sphingomyelinase]] deficiency. Type C NPD results from defective intracellular trafficking of cholesterol. Both types are featured by deposition of lipids such as [[cholesterol]], [[sphingomyelin]], and [[bisphosphonate]] in various organs. | ||
==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
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Revision as of 16:20, 10 November 2013
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Overview
Niemann-Pick disease (NPD) is a group of autosomal recessive disorders that are classified into two broad types. Types A and B NPD are lysosomal storage diseases due to sphingomyelinase deficiency. Type C NPD results from defective intracellular trafficking of cholesterol. Both types are featured by deposition of lipids such as cholesterol, sphingomyelin, and bisphosphonate in various organs.