- A Novel DHCR7 Mutation in a Smith-Lemli-Opitz Syndrome Infant Presenting with Neonatal Cholestasis
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Ko JS, Choi BS, Seo JK, Shin JY, Chae JH, Kang GH, Lee R, Ki CS, Kim JW
- KMID: 1713850
- J Korean Med Sci.
- 2010 Jan;25(1):159-162.
- doi: 10.3346/jkms.2010.25.1.159
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive malformation syndrome caused by a defect in cholesterol biosynthesis. The incidence is very low in Asians and only one case has been reported... -
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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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- Biliverdin reductase A in the prevention of cellular senescence against oxidative stress
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Kim SY, Kang HT, Choi HR, Park SC
- KMID: 991619
- Exp Mol Med.
- 2011 Jan;43(1):15-23.
- doi: 10.3858/emm.2011.43.1.002
Biliverdin reductase A (BLVRA), an enzyme that converts biliverdin to bilirubin, has recently emerged as a key regulator of the cellular redox cycle. However, the role of BLVRA in the... -
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