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Cerebrotendinous xanthomatosis - A case report

Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder resulting from a defective enzyme in bile acid synthesis pathway leading to neurological, ocular, vascular, and musculoskeletal symptoms from deposition of cholestanol and cholesterol in these tissues. We present clinical an...

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Detalles Bibliográficos
Publicado en:Indian J Radiol Imaging
Autores principales: Parry, Arshed Hussain, Wani, Abdul Haseeb, Bashir, Muiez, Gojwari, Tariq A
Formato: Artigo
Lenguaje:Inglês
Publicado: Wolters Kluwer - Medknow 2019
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6857253/
https://ncbi.nlm.nih.gov/pubmed/31741606
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/ijri.IJRI_444_18
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