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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...

詳細記述

保存先:
書誌詳細
第一著者: Vadapalli, Satyadev
フォーマット: Artigo
言語:Inglês
出版事項: Medknow Publications & Media Pvt Ltd 2013
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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