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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Autors principals: Irene Degrassi (Autor), Chiara Amoruso (Autor), Giuseppe Giordano (Autor), Marina Del Puppo (Autor), Andrea Mignarri (Autor), Maria Teresa Dotti (Autor), Mauro Naturale (Autor), Gabriella Nebbia (Autor)
Format: Llibre
Publicat: Frontiers Media S.A., 2020-07-01T00:00:00Z.
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