脳腱黄色腫症。脳腱コレステリン症
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English Journal
- Enlarging brain xanthomas in a patient with cerebrotendinous xanthomatosis.
- Brienza M1, Fiermonte G, Cambieri C, Mignarri A, Dotti MT, Fiorelli M.
- Journal of inherited metabolic disease.J Inherit Metab Dis.2015 Jan 8. [Epub ahead of print]
- PMID 25567502
- Cerebrotendinous xanthomatosis: the effectiveness of high-dose piracetam for the treatment of cerebellar and sensorial ataxia.
- Uygunoglu U1, Gunduz A, Menku SF, Yilmaz B, Hatipoglu E, Yalcinkaya C, Saip S, Apaydin H.
- Cerebellum (London, England).Cerebellum.2014 Dec;13(6):787-90. doi: 10.1007/s12311-014-0587-y.
- PMID 25084753
- Genetic movement disorders in patients of jewish ancestry.
- Inzelberg R1, Hassin-Baer S1, Jankovic J2.
- JAMA neurology.JAMA Neurol.2014 Dec 1;71(12):1567-72. doi: 10.1001/jamaneurol.2014.1364.
- IMPORTANCE: Genetic diseases often cluster in different ethnic groups and may present with recognizable unique clinical manifestations.OBJECTIVE: To summarize current knowledge about movement disorders overrepresented among patients of Jewish ancestry.EVIDENCE REVIEW: We searched PubMed and the OMIM
- PMID 25347348
Related Links
- Definition of Cerebrotendinous cholesterinosis with photos and pictures, translations, sample usage, and additional links for more information. ... Medical Definition of Cerebrotendinous cholesterinosis 1. A disorder with deposition of ...
- cerebral cholesterinosis sterol 27-hydroxylase deficiency Disorder Subdivisions None General Discussion Summary Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive genetic disorder caused by an abnormality ...
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- 英
- cerebrotendinous xanthomatosis, CTX
- 同
- 脳腱コレステリン症 cerebrotendinous cholesterinosis
- 関
- ヴァン・ボゲール・シェラー・エプシュタイン症候群、cholestanolosis