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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Detalhes bibliográficos
Publicado no:Front Pediatr
Main Authors: Degrassi, Irene, Amoruso, Chiara, Giordano, Giuseppe, Del Puppo, Marina, Mignarri, Andrea, Dotti, Maria Teresa, Naturale, Mauro, Nebbia, Gabriella
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2020
Assuntos:
Pediatrics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7381104/
https://ncbi.nlm.nih.gov/pubmed/32766184
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fped.2020.00382
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