- A case of Smith-Lemli-Opitz syndrome diagnosed by identification of mutations in the 7-dehydrocholesterol reductase (DHCR7) gene
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Park MR, Ko JM, Cheon CK, Kim GH, Yoo HW
- KMID: 2280251
- Korean J Pediatr.
- 2008 Nov;51(11):1236-1240.
- doi: 10.3345/kjp.2008.51.11.1236
Smith-Lemli-Opitz syndrome (SLOS) is a rare, autosomal recessive disease caused by an inborn error in cholesterol synthesis. Patients with this disease suffer from multiple malformations due to reduced activity of... -
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- Oxysterol (3,5-cholestadien-7-one, 5beta-cholestan-3-one, 5,24-cholestadien-3beta-OL) Induced Cytotoxicity and Apoptosis in Gallbladder Epithelial Cells
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Choi HS, Kim YW
- KMID: 772705
- Korean J Gastroenterol.
- 2004 Dec;44(6):328-336.
BACKGROUND/AIMS: Biliary epithelial cells are exposed to highly concentrated oxysterols. Therefore, oxysterols may play a role in pathogenesis of biliary tract diseases. We investigated the cytotoxic effect and apoptosis... -
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