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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Autores principales: 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
Lenguaje:Inglês
Publicado: The American Society for Biochemistry and Molecular Biology 2010
Materias:
Patient-Oriented and Epidemiological Research
Acceso en línea: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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