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
Autores principales: Parry, Arshed Hussain, Wani, Abdul Haseeb, Bashir, Muiez, Gojwari, Tariq A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6857253/
https://www.ncbi.nlm.nih.gov/pubmed/31741606
http://dx.doi.org/10.4103/ijri.IJRI_444_18

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6857253/
https://www.ncbi.nlm.nih.gov/pubmed/31741606
http://dx.doi.org/10.4103/ijri.IJRI_444_18

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