Successful Treatment of a Rare Cholesterol Homeostasis Disorder Due to CYP27A1 Gene Mutation with Chenodeoxycholic Acid Therapy

Cerebrotendinous xanthomatosis (CTX) is a genetic disorder of the cholesterol metabolic pathway, most often associated with variants in the CYP27A1 gene. The dysregulation of cholesterol metabolism results in the accumulation of metabolites such as cholestanol, which has a predilection for neuronal...

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Detalles Bibliográficos
Autores principales: Brlek, Petar, Bulić, Luka, Glavaš Weinberger, David, Bošnjak, Jelena, Pavlović, Tomislav, Tomić, Svetlana, Krivdić Dupan, Zdravka, Borić, Igor, Primorac, Dragan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10216236/
https://www.ncbi.nlm.nih.gov/pubmed/37239101
http://dx.doi.org/10.3390/biomedicines11051430

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10216236/
https://www.ncbi.nlm.nih.gov/pubmed/37239101
http://dx.doi.org/10.3390/biomedicines11051430

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