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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Dades bibliogràfiques
Autors principals: S Sheetal, P Byju
Format: Artigo
Idioma:Inglês
Publicat: Wolters Kluwer Medknow Publications 2020-01-01
Col·lecció:Archives of Medicine and Health Sciences
Matèries:
cataract
cerebrotendinous xanthomatosis
dentate hyperintensity
tendon xanthomas
Accés en línia: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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