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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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Hlavní autor: Vadapalli, Satyadev
Médium: Artigo
Jazyk:Inglês
Vydáno: Medknow Publications & Media Pvt Ltd 2013
Témata:
On-line přístup: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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