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
✦ LIBER ✦
Diagnosis of Sjögren-Larsson Syndrome by Magnetic Resonance Spectroscopy
✍ Scribed by Emmanuelle Lagrue; Laurent Barantin; Dominique Sirinelli; Pierre Castelnau
- Book ID
- 116826034
- Publisher
- Elsevier Science
- Year
- 2012
- Tongue
- English
- Weight
- 293 KB
- Volume
- 46
- Category
- Article
- ISSN
- 0887-8994
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Sjögren-Larsson syndrome (SLS) is a rare, autosomal recessive disorder characterized by congenital ichthyosis, mental retardation, and spastic diplegia or tetraplegia. The disorder has the highest incidence in the north of Sweden and most of the cases are caused by a C943T mutation in the FALDH gene