Английская Википедия:Desmosterolosis
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Шаблон:Infobox medical condition (new)
Desmosterolosis in medicine and biology is a defect in cholesterol biosynthesis.[1] It results in an accumulation of desmosterol and a variety of associated symptoms.[2] Only two cases have been reported as of 2007.[3] The condition is due to inactivating mutations in 24-dehydrocholesterol reductase.[4] Certain anticholesterolemic and antiestrogenic drugs such as triparanol, ethamoxytriphetol, and clomifene have been found to inhibit conversion of desmosterol into cholesterol and to induce desmosterolosis, for instance cataracts.[5]
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Шаблон:Medical resources Шаблон:Defects of steroid metabolism
