Case Report: Early Treatment With Chenodeoxycholic Acid in Cerebrotendinous Xanthomatosis Presenting as Neonatal Cholestasis

Background: Cerebrotendinous xanthomatosis (CTX) is an inborn disorder of bile acid synthesis which causes progressive accumulation of toxic metabolites in various organs, particularly in brain and tendons. Most cases are diagnosed and treated in the second or third decade of life, when neurological...

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Detalles Bibliográficos
Autores principales: Degrassi, Irene, Amoruso, Chiara, Giordano, Giuseppe, Del Puppo, Marina, Mignarri, Andrea, Dotti, Maria Teresa, Naturale, Mauro, Nebbia, Gabriella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7381104/
https://www.ncbi.nlm.nih.gov/pubmed/32766184
http://dx.doi.org/10.3389/fped.2020.00382

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7381104/
https://www.ncbi.nlm.nih.gov/pubmed/32766184
http://dx.doi.org/10.3389/fped.2020.00382

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