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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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Detalhes bibliográficos
Publicado no:Cerebellum Ataxias
Main Authors: Islam, Mahjabin, Hoggard, Nigel, Hadjivassiliou, Marios
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2021
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7844909/
https://ncbi.nlm.nih.gov/pubmed/33509302
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40673-021-00128-2
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