Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management

Cerebrotendinous xanthomatosis (CTX) OMIM#213700 is a rare autosomal-recessive lipid storage disease caused by mutations in the CYP27A1 gene; this gene codes for the mitochondrial enzyme sterol 27-hydroxylase, which is involved in bile acid synthesis. The CYP27A1 gene is located on chromosome 2q33-q...

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Detalles Bibliográficos
Autores principales: Nie, Shuke, Chen, Guiqin, Cao, Xuebing, Zhang, Yunjian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4264335/
https://www.ncbi.nlm.nih.gov/pubmed/25424010
http://dx.doi.org/10.1186/s13023-014-0179-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4264335/
https://www.ncbi.nlm.nih.gov/pubmed/25424010
http://dx.doi.org/10.1186/s13023-014-0179-4

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