We report on an infant girl with severe RSH or Smith-Lemli-Opitz syndrome with hyperbilirubinemia. The infant died at age 2 months. Sterol analysis of liver and brain tissues showed marked elevations of 7-dehydrocholesterol with decreased levels of cholesterol. Immunocytochemical analysis demonstrat
Allele-specific measurement of low-density lipoprotein receptor transcript levels
✍ Scribed by Lillian G. Jensen; Henrik K. Jensen; Finn Heath; Hans Eiberg; Margrethe Kjeldsen; Ole Færgeman; Steen Kølvraa; Lars Bolund; Niels Gregersen
- Publisher
- John Wiley and Sons
- Year
- 1996
- Tongue
- English
- Weight
- 667 KB
- Volume
- 8
- Category
- Article
- ISSN
- 1059-7794
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✦ Synopsis
Communicated by H
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