The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes

The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes

Niemann-Pick type C1 disease (NPC1) is an autosomal recessive lysosomal storage disorder characterized by neonatal jaundice, hepatosplenomegaly, and progressive neurodegeneration. The present study provides the lipid profiles, mutations, and corresponding associations with the biochemical phenotype...

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Bibliographic Details
Main Authors: William S. Garver, David Jelinek, F. John Meaney, James Flynn, Kathleen M. Pettit, Glen Shepherd, Randall A. Heidenreich, Cate M. Walsh Vockley, Graciela Castro, Gordon A. Francis
Format: Article
Language:English
Published: Elsevier 2010-02-01
Series:Journal of Lipid Research
Subjects:
plasma lipoproteins
lysosomal storage disease
high density lipoproteins
biomarker
Online Access:http://www.sciencedirect.com/science/article/pii/S0022227520305460

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http://www.sciencedirect.com/science/article/pii/S0022227520305460

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