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Diagnosis of familial hypercholesterolemia by measurement of sterol synthesis in cultured skin fibroblasts

✍ Scribed by A.K. Khachadurian; M. Lipson; F.S. Kawahara

Book ID
118894203
Publisher
Elsevier Science
Year
1975
Tongue
English
Weight
667 KB
Volume
21
Category
Article
ISSN
0021-9150

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The Smith-Lemli-Opitz syndrome is a common birth defect syndrome caused by a deficiency of 7-dehydrocholesterol ⌬ 7 -reductase, an essential enzyme in the biosynthesis of cholesterol. The syndrome can usually be diagnosed easily from the plasma markers of markedly elevated 7-dehydrocholesterol and r