|1.||Haas, D: 2 articles (07/2015 - 01/2005)|
|2.||Haas, Dorothea: 2 articles (01/2013 - 01/2008)|
|3.||Mütze, U: 1 article (07/2015)|
|4.||Beblo, S: 1 article (07/2015)|
|5.||Becker, S: 1 article (07/2015)|
|6.||Röhnike, S: 1 article (07/2015)|
|7.||Mohnike, K: 1 article (07/2015)|
|8.||Empting, S: 1 article (07/2015)|
|9.||Ceglarek, U: 1 article (07/2015)|
|10.||Husain, R A: 1 article (07/2015)|
08/01/2003 - "27-Hydroxylation of 7- and 8-dehydrocholesterol in Smith-Lemli-Opitz syndrome: a novel metabolic pathway."
01/25/2002 - "Smith-Lemli-Opitz syndrome (SLOS) patients have increased 7- and 8-dehydrocholesterol (DHC) concentrations. "
04/01/1995 - "Identification of 8-dehydrocholesterol (cholesta-5,8-dien-3 beta-ol) in patients with Smith-Lemli-Opitz syndrome."
11/22/2002 - "Soon after the discovery of reduced cholesterol synthesis in the Smith-Lemli-Opitz syndrome (SLOS), several trials with dietary supplementation were initiated with the aim of increasing cholesterol and reducing the de novo synthesis and accumulation of 7- and 8-dehydrocholesterol (DHC). "
01/01/2013 - "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. "
|2.||Chondrodysplasia Punctata (Stippled Epiphyses)
07/01/2008 - "High 8-dehydrocholesterol level in a typical case of Conradi-Hunermann-Happle syndrome with a novel H76Y missense mutation."
01/01/2008 - "Diagnosis of Conradi-Hünermann-Happle syndrome was confirmed by plasma sterol analysis showing markedly elevated levels of 8(9)-cholestenol and 8-dehydrocholesterol and by detection of a missense mutation (c.307G>A; p.E103K) in the emopamil-binding protein gene. "
03/01/2008 - "In this study, we demonstrate abnormal accumulation of sterol precursors of cholesterol in membrane lipid rafts (detergent resistance membranes) prepared from liver tissues of these 2 infants: 8-dehydrocholesterol and 7-dehydrocholesterol in lipid rafts of the infant with Smith-Lemli-Opitz syndrome and cholest-8(9)-ene-3beta-ol in lipid rafts of the infant with X-linked dominant chondrodysplasia punctata. "
|3.||Metabolic Diseases (Metabolic Disease)
|4.||Animal Disease Models
|6.||Carrier Proteins (Binding Protein)