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Cerebrotendinous xanthomatosis
Cerebrotendinous xanthomatosis is a rare autosomal recessive lipid storage disorder affecting the biosynthetic pathway of bile acids, leading to increased cholestanol formation and its accumulation in various tissues. Patients can present with tendon xanthomas, gait abnormalities, osteoporosis with...
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| 第一著者: | |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Medknow Publications & Media Pvt Ltd
2013
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3654472/ https://ncbi.nlm.nih.gov/pubmed/23682184 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/0019-5413.108918 |
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