Progressive ataxia of cerebrotendinous xanthomatosis with a rare c.255+1G>T splice site mutation: A case report

BACKGROUND: Cerebrotendinous xanthomatosis is an autosomal recessive disorder of lipid metabolism caused by the mutation of the CYP27A1 gene encoding sterol 27-hydroxylase, an essential enzyme for the conversion of cholesterol to chenodeoxycholic and cholic acids. Cerebrotendinous xanthomatosis is a...

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Detalles Bibliográficos
Autores principales: Chang, Yue-Yue, Yu, Chuan-Qing, Zhu, Lei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9602241/
https://www.ncbi.nlm.nih.gov/pubmed/36312475
http://dx.doi.org/10.12998/wjcc.v10.i29.10681

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9602241/
https://www.ncbi.nlm.nih.gov/pubmed/36312475
http://dx.doi.org/10.12998/wjcc.v10.i29.10681

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