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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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| Publicado no: | Cerebellum Ataxias |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2021
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| 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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