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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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Detalles Bibliográficos
Autor principal: Vadapalli, Satyadev
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3654472/
https://www.ncbi.nlm.nih.gov/pubmed/23682184
http://dx.doi.org/10.4103/0019-5413.108918

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