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Treatment of Smith-Lemli-Opitz syndrome and other sterol disorders

✍ Scribed by Svoboda, Melissa D.; Christie, Jill M.; Eroglu, Yasemen; Freeman, Kurt A.; Steiner, Robert D.

Book ID
118751256
Publisher
John Wiley and Sons
Year
2012
Tongue
English
Weight
492 KB
Volume
160C
Category
Article
ISSN
1552-4868

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The RSH/Smith-Lemli-Opitz syndrome (RSH/SLOS) is an autosomal recessive malformation syndrome comprising microcephaly, developmental and growth retardation, characteristic facial anomalies, midline cleft palate, and genital and limb anomalies. Recently, biochemical evidence of an inborn error of cho

Treatment of Smith-Lemli-Opitz syndrome:
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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