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111. Miglustat in Niemann-Pick disease type C (NPC)

✍ Scribed by Ed Wraith; Darleen Vecchio; Helena Prady; Larry Abel; Marc Patterson


Book ID
116988296
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
43 KB
Volume
93
Category
Article
ISSN
1096-7192

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NPC-db, a Niemann-Pick type C disease ge
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Niemann-Pick type C (NPC) disease is a rare autosomal-recessive lysosomal storage disease typically accompanied by progressive impairment of nervous system and liver function. Biochemically, the disorder presents with an inhibited egress of cholesterol and glycosphingolipids from endosomal and lysos