Cerebrotendinous Xanthomatosis: diversity of presentation and refining treatment with chenodeoxycholic acid

BACKGROUND: Cerebrotendinous xanthomatosis (CTX) is a rare but treatable neurometabolic disorder of lipid storage and bile acid synthesis. Whilst CTX is said to present with the classic triad of juvenile onset cataracts, tendon xanthomata and progressive ataxia, the diversity of presentation can be...

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Detalles Bibliográficos
Autores principales: Islam, Mahjabin, Hoggard, Nigel, Hadjivassiliou, Marios
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7844909/
https://www.ncbi.nlm.nih.gov/pubmed/33509302
http://dx.doi.org/10.1186/s40673-021-00128-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7844909/
https://www.ncbi.nlm.nih.gov/pubmed/33509302
http://dx.doi.org/10.1186/s40673-021-00128-2

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