- Vitamin D dependent rickets type I
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Kim CJ
- KMID: 2073621
- Korean J Pediatr.
- 2011 Feb;54(2):51-54.
- doi: 10.3345/kjp.2011.54.2.51
Vitamin D is present in two forms, ergocalciferol (vitamin D2) produced by plants and cholecalciferol (vitamin D3) produced by animal tissues or by the action of ultraviolet light on 7-dehydrocholesterol... -
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- 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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- Cholesterol induce oligomerization of Vibrio vulnificus cytolysin specifically.
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Kim BS, Kim JS
- KMID: 1380232
- Exp Mol Med.
- 2002 Jul;34(3):239-242.
Vibrio vulnificus cytolysin (VVC) has been implicated as one of the important virulence determinants of V. vulnificus that causes serious septicemia and wound infection. An attempt was made to investigate... -
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