Carrier detection for Sjögren-Larsson syndrome
✍ Scribed by T. L. Kelson; D. A. Craft; W. B. Rizzo
- Publisher
- Springer
- Year
- 1992
- Tongue
- English
- Weight
- 539 KB
- Volume
- 15
- Category
- Article
- ISSN
- 0141-8955
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A family with 12 children, 6 of whom had Sjrgren-Larsson syndrome, was studied clinically. On CT, all six siblings with the disease had patchy regions of white matter hypodensity, most marked in the frontal lobes, which were confluent in the more severe cases. The ventricles were not enlarged and no
A deficit of fatty alcohol:NAD+ oxidoreductase complex (FAO) activity has been detected in patients with the Sjögren-Larsson syndrome (SLS). A moderate decrease in FAO activity has also been reported in heterozygote SLS subjects. Abnormal peaks were detected with proton magnetic resonance spectrosco