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Raine syndrome: an overview.
Faundes V, Castillo-Taucher S, Gonzalez-Hormazabal P, Chandler K, Crosby A, Chioza B. Faundes V, et al. Eur J Med Genet. 2014 Sep;57(9):536-42. doi: 10.1016/j.ejmg.2014.07.001. Epub 2014 Jul 12. Eur J Med Genet. 2014. PMID: 25019372 Review.
Sterol metabolism disorders and neurodevelopment-an update.
Kanungo S, Soares N, He M, Steiner RD. Kanungo S, et al. Dev Disabil Res Rev. 2013;17(3):197-210. doi: 10.1002/ddrr.1114. Dev Disabil Res Rev. 2013. PMID: 23798009 Review.
In this article, we review sterol synthesis disorders in the pre- and post-squalene pathway highlighting neurodevelopmental aspects that underlie the clinical presentations and course of Smith-Lemli-Opitz Syndrome (SLOS), mevalonic aciduria (MVA) or the milder version hype …
In this article, we review sterol synthesis disorders in the pre- and post-squalene pathway highlighting neurodevelopmental aspects that und …
Modeling cholesterol metabolism by gene expression profiling in the hippocampus.
Valdez CM, Phelix CF, Smith MA, Perry G, Santamaria F. Valdez CM, et al. Mol Biosyst. 2011 Jun;7(6):1891-901. doi: 10.1039/c0mb00282h. Epub 2011 Mar 30. Mol Biosyst. 2011. PMID: 21451815 Free PMC article.
Overall, our model and methodology can be used to pinpoint key reactions, which, upon manipulation, may predict altered cholesterol levels and reveal insights into potential drug therapy targets under diseased conditions....
Overall, our model and methodology can be used to pinpoint key reactions, which, upon manipulation, may predict altered cholesterol l …