A Rare Case of Cerebrotendinous Xanthomatosis Associated With a Mutation on COG8 Gene

Cerebrotendinous xanthomatosis (CTX) is a rare hereditary disease described by a mutation in the CYP27A1 gene, which encodes the sterol 27-hydroxylase enzyme involved in the synthesis of bile acid. Accumulation of cholesterol and its metabolite, cholestanol, in multiple body organs causes the sympto...

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Detalles Bibliográficos
Autores principales: Ghoshouni, Hamed, Sarmadian, Roham, Irilouzadian, Rana, Biglari, Habibe Nejad, Gilani, Abolfazl
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10126670/
https://www.ncbi.nlm.nih.gov/pubmed/37083278
http://dx.doi.org/10.1177/23247096231168109

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