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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Detalhes bibliográficos
Main Authors: Garver, William S., Jelinek, David, Meaney, F. John, Flynn, James, Pettit, Kathleen M., Shepherd, Glen, Heidenreich, Randall A., Vockley, Cate M. Walsh, Castro, Graciela, Francis, Gordon A.
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society for Biochemistry and Molecular Biology 2010
Assuntos:
Patient-Oriented and Epidemiological Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2803243/
https://ncbi.nlm.nih.gov/pubmed/19744920
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1194/jlr.P000331
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