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Magnetic resonance spectroscopy appearances of Sanfilippo syndrome

✍ Scribed by Lye Quen Hon; Daniel James Anthony Connolly; Asha Ravi; Ruth Batty; Iain David Wilkinson


Book ID
116441877
Publisher
Elsevier Science
Year
2009
Tongue
English
Weight
278 KB
Volume
71
Category
Article
ISSN
1571-4675

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A deficit of fatty alcohol:NAD+ oxidoreductase complex (FAO) activity has been detected in patients with the SjΓΆgren-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