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Natural history of cerebrotendinous xanthomatosis: a paediatric disease diagnosed in adulthood
Cerebrotendinous xanthomatosis (CTX) is among the few inherited neurometabolic disorders amenable to specific treatment. It is easily diagnosed using plasma cholestanol. We wished to delineate the natural history of the most common neurological and non-neurological symptoms in thirteen patients with...
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| Yayımlandı: | Orphanet J Rare Dis |
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| Asıl Yazarlar: | , , , , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
BioMed Central
2016
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4833925/ https://ncbi.nlm.nih.gov/pubmed/27084087 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-016-0419-x |
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