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Hepatotoxicity due to chenodeoxycholic acid supplementation in an infant with cerebrotendinous xanthomatosis: implications for treatment

We present a two-week old girl who was diagnosed with cerebrotendinous xanthomatosis (CTX), an inborn error of bile acid synthesis, after a diagnostic workup for convulsions which were shown to be caused by a parechovirus encephalitis. The diagnosis of CTX was confirmed with CYP27A1 mutation analysi...

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Detalhes bibliográficos
Publicado no:Eur J Pediatr
Main Authors: Huidekoper, Hidde H., Vaz, Frédéric M., Verrips, Aad, Bosch, Annet M.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2015
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4709371/
https://ncbi.nlm.nih.gov/pubmed/26156051
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00431-015-2584-7
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