Article
Sterols and oxysterols in plasma from Smith-Lemli-Opitz syndrome patients.
The Journal of steroid biochemistry and molecular biology - 1 May 2017
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
Abstract excerpt
Smith-Lemli-Opitz syndrome (SLOS) is a severe autosomal recessive disorder resulting from defects in the cholesterol synthesising enzyme 7-dehydrocholesterol reductase (Δ7-sterol reductase, DHCR7, EC 1.3.1.21) leading to a build-up of the cholesterol precursor 7-dehydrocholesterol (7-DHC) in tissues and blood plasma. Although the underling enzyme deficiency associated with SLOS is clear there are likely to be...
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