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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Bibliographische Detailangaben
Hauptverfasser: 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.
Format: Artigo
Sprache:Inglês
Veröffentlicht: The American Society for Biochemistry and Molecular Biology 2010
Schlagworte:
Patient-Oriented and Epidemiological Research
Online Zugang: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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