Sterol 27-Hydroxylase Deficiency as a Cause of Neonatal Cholestasis: Report of 2 Cases and Review of the Literature

• Hoofdauteurs: Patryk Lipiński (Auteur), Maja Klaudel-Dreszler (Auteur), Elzbieta Ciara (Auteur), Dorota Jurkiewicz (Auteur), Rafał Płoski (Auteur), Joanna Cielecka-Kuszyk (Auteur), Piotr Socha (Auteur), Irena Jankowska (Auteur)
• Formaat: Boek
• Gepubliceerd in: Frontiers Media S.A., 2021-01-01T00:00:00Z.
• Onderwerpen: article
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Introduction: Inborn errors of primary bile acid (BA) synthesis are rare autosomal recessive disorders responsible for 1-2% of cases of neonatal cholestasis. Among them, cerebrotendinous xanthomatosis (CTX) is caused by mutations in the CYP27A1 gene resulting in the impairment of sterol 27-hydroxyla...