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565 Acute Reversal of the Lysosomal Transport Defect in the Liver of the Niemann Pick Type C Mouse

โœ Scribed by Benny Liu; Charina M. Ramirez; Stephen D. Turley; John M. Dietschy


Book ID
119430257
Publisher
Elsevier Science
Year
2009
Tongue
English
Weight
153 KB
Volume
136
Category
Article
ISSN
0016-5085

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## Abstract Niemannโ€Pick type C1 (NPC1) disease is an autosomalโ€recessive cholesterolโ€storage disorder characterized by liver dysfunction, hepatosplenomegaly, and progressive neurodegeneration. The NPC1 gene is expressed in every tissue of the body, with liver expressing the highest amounts of NPC1