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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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Detaylı Bibliyografya
Yazar: Vadapalli, Satyadev
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Medknow Publications & Media Pvt Ltd 2013
Konular:
Online Erişim: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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