Article
Niemann-Pick Disease Type C: from molecule to clinic.
Clinical and experimental pharmacology & physiology - 1 Jan 2010
Tang Ying, Li He, Liu Jun-Ping
Abstract excerpt
1. Niemann-Pick Type C disease (NPC) is an incurable cholesterol-storage disorder that stems from inherited deficiencies of lysosomal proteins involved in intracellular lipid-trafficking proteins. The condition manifests as progressive neurological impairment and leads to death at an early age. 2. To improve clinical recognization and investigate therapeutic strategies, recent studies using molecular and genetic...
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