Multi-imaging study in a patient with cerebrotendinous xanthomatosis: radiology, clinic and pathology correlation of a rare condition

Cerebrotendinous xanthomatosis (CTX) is a rare metabolic disease with autosomal recessive inheritance. It is caused by mutations of the CYP27A1 gene, which codifies for sterol 27-hydroxylase, an enzyme that is responsible for the synthesis of cholic acids. In CTX, cholic acid synthesis is impaired,...

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Detalles Bibliográficos
Autores principales: Dell'Aversano Orabona, Giuseppina, Dato, Clemente, Oliva, Mariano, Ugga, Lorenzo, Dotti, Maria Teresa, Fratta, Mario, Gisonni, Pietro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The British Institute of Radiology. 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7068097/
https://www.ncbi.nlm.nih.gov/pubmed/32201602
http://dx.doi.org/10.1259/bjrcr.20190047

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7068097/
https://www.ncbi.nlm.nih.gov/pubmed/32201602
http://dx.doi.org/10.1259/bjrcr.20190047

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