Associated Papers
Human and mouse neuroinflammation markers in Niemann-Pick disease, type C1.
Cologna SM et al.
Journal of Inherited Metabolic Disease, 2014
The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes.
Garver WS et al.
Journal of Lipid Research, 2010
Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1.
Park WD et al.
Human Mutation, 2003
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