Sterols and Oxysterols in Plasma from Smith-Lemi-Opitz Syndrome Patients

Smith-Lemli-Opitz syndrome (SLOS) is a severe autosomal recessive disorder resulting from defects in the cholesterol synthesising enzyme 7-dehydrocholesterol reductase (Δ(7)-sterol reductase, DHCR7, EC 1.3.1.21) leading to a build-up of the cholesterol precursor 7-dehydrocholesterol (7-DHC) in tissu...

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Publicado en:J Steroid Biochem Mol Biol
Main Authors: Griffiths, William J., Abdel-Khalik, Jonas, Crick, Peter J., Ogundare, Michael, Shackleton, Cedric H., Tuschl, Karin, Kwok, Mei Kwun, Bigger, Brian W., Morris, Andrew A., Honda, Akira, Xu, Libin, Porter, Ned A., Björkhem, Ingemar, Clayton, Peter T., Wang, Yuqin
Formato: Artigo
Idioma:Inglês
Publicado: 2016
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC5018427/
https://ncbi.nlm.nih.gov/pubmed/26976653
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jsbmb.2016.03.018
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