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Cerebrotendinous xanthomatosis: Clinical and neuroimaging findings
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder of effective bile acid biosynthesis (adult lipid storage disorder with the underlying mutation in the CYP27 gene, which encodes sterol 27-hydroxylase, a key enzyme in the conversion of cholesterol to the primary bile acids c...
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| Главные авторы: | , |
|---|---|
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Wolters Kluwer Medknow Publications
2020-01-01
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| Серии: | Archives of Medicine and Health Sciences |
| Предметы: | |
| Online-ссылка: | http://www.amhsjournal.org/article.asp?issn=2321-4848;year=2020;volume=8;issue=1;spage=161;epage=162;aulast=Sheetal |
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