Cerebrotendinous Xanthomatosis: Molecular Pathogenesis, Clinical Spectrum, Diagnosis, and Disease-Modifying Treatments

Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid storage disorder caused by mutations in the CYP27A1 gene, which encodes the mitochondrial enzyme sterol 27-hydroxylase. Decreased sterol 27-hydroxylase activity results in impaired bile acid synthesis, leading to reduced production...

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Detalles Bibliográficos
Autores principales: Koyama, Shingo, Sekijima, Yoshiki, Ogura, Masatsune, Hori, Mika, Matsuki, Kota, Miida, Takashi, Harada-Shiba, Mariko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Japan Atherosclerosis Society 2021
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8532057/
https://www.ncbi.nlm.nih.gov/pubmed/33967188
http://dx.doi.org/10.5551/jat.RV17055

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8532057/
https://www.ncbi.nlm.nih.gov/pubmed/33967188
http://dx.doi.org/10.5551/jat.RV17055

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