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P18.5 Diagnostic utility of magnetic resonance spectroscopy in non classic Sjögren-Larsson syndrome

✍ Scribed by S. Aguilera-Albesa; T. Durá-Travé; M.E. Yoldi-Petri; T. Molins


Book ID
114360608
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
49 KB
Volume
15
Category
Article
ISSN
1090-3798

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✍ Tatsuro Kaminaga; Toshiyuki Mano; Jiro Ono; Hideo Kusuoka; Hironobu Nakamura; Ts 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 144 KB

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