Assays of plasma dehydrocholesteryl esters and oxysterols from Smith-Lemli-Opitz syndrome patients

Smith-Lemli-Opitz syndrome (SLOS) is caused by mutations in the gene encoding 3β-hydroxysterol-Δ(7)-reductase and as a result of this defect, 7-dehydrocholesterol (7-DHC) and 8-dehydrocholesterol (8-DHC) accumulate in the fluids and tissues of patients with this syndrome. Both 7- and 8-DHC are susce...

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Autores principales: Liu, Wei, Xu, Libin, Lamberson, Connor R., Merkens, Louise S., Steiner, Robert D., Elias, Ellen R., Haas, Dorothea, Porter, Ned A.
Formato: Artigo
Lenguaje:Inglês
Publicado: The American Society for Biochemistry and Molecular Biology 2013
Materias:
Patient-Oriented and Epidemiological Research
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3520531/
https://ncbi.nlm.nih.gov/pubmed/23072947
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1194/jlr.M031732
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