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

• Auteurs principaux: Irene Degrassi (Auteur), Chiara Amoruso (Auteur), Giuseppe Giordano (Auteur), Marina Del Puppo (Auteur), Andrea Mignarri (Auteur), Maria Teresa Dotti (Auteur), Mauro Naturale (Auteur), Gabriella Nebbia (Auteur)
• Format: Livre
• Publié: Frontiers Media S.A., 2020-07-01T00:00:00Z.
• Sujets: article
• Accès en ligne: Connect to this object online.

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...