Pathophysiology and Treatment of Lipid Abnormalities in Cerebrotendinous Xanthomatosis: An Integrative Review

Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive disorder caused by pathogenic variants in CYP27A1, leading to a deficiency in sterol 27-hydroxylase. This defect results in the accumulation of cholestanol and bile alcohols in various tissues, including the brain, tendons and peripheral...

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Detalles Bibliográficos
Autores principales: Ribeiro, Rodrigo Mariano, Vasconcelos, Sophia Costa, Lima, Pedro Lucas Grangeiro de Sá Barreto, Coelho, Emanuel Ferreira, Oliveira, Anna Melissa Noronha, Gomes, Emanuel de Assis Bertulino Martins, Mota, Luciano de Albuquerque, Radtke, Lucas Soares, Carvalho, Matheus dos Santos, Araújo, David Augusto Batista Sá, Pinheiro, Maria Suelly Nogueira, Gama, Vitor Carneiro de Vasconcelos, Júnior, Renan Magalhães Montenegro, Braga Neto, Pedro, Nóbrega, Paulo Ribeiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10377253/
https://www.ncbi.nlm.nih.gov/pubmed/37508912
http://dx.doi.org/10.3390/brainsci13070979

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