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Treatment of Smith-Lemli-Opitz syndrome and retina function determined by electroretinography

✍ Scribed by Rebecca S. Braverman; Naresh Mandava; Suhong Tong; Ellen R. Elias

Book ID
116591332
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
40 KB
Volume
16
Category
Article
ISSN
1528-3933

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Patients with the RSH or Smith-Lemli-Opitz syndrome (SLOS) have an inborn error of cholesterol biosynthesis which results in a deficiency of cholesterol and an elevation of the cholesterol precursor, 7-dehydrocholesterol. A treatment protocol consisting of administration of cholesterol ؎ bile acids