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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Detaylı Bibliyografya
Asıl Yazarlar: S Sheetal, P Byju
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Wolters Kluwer Medknow Publications 2020-01-01
Seri Bilgileri:Archives of Medicine and Health Sciences
Konular:
cataract
cerebrotendinous xanthomatosis
dentate hyperintensity
tendon xanthomas
Online Erişim: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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