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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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| 出版年: | Orphanet J Rare Dis |
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| 主要な著者: | , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BioMed Central
2016
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| 主題: | |
| オンライン･アクセス: | 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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