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
MRI of three siblings with Sjögren-Larsson syndrome
✍ Scribed by Deniz Altınok; Yasemin T. Yıldız; Deniz Seçkin; Gülçin Altınok; Tuğra Tacal; Muzaffer Eryılmaz
- Publisher
- Springer-Verlag
- Year
- 1999
- Tongue
- English
- Weight
- 592 KB
- Volume
- 29
- Category
- Article
- ISSN
- 0301-0449
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
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
The gene encoding the human fatty aldehyde dehydrogenase (FALDH) is located on 17p11.2, causing Sjögren-Larsson syndrome (SLS) when mutated. SLS is an autosomal recessive disorder characterized by a combination of mental retardation, congenital ichthyosis, and spastic di-or tetraplegia. We report he