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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:J Steroid Biochem Mol Biol
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2016
Gaiak:
Article
Sarrera elektronikoa: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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