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

• Glavni autori: Patryk Lipiński (Autor), Maja Klaudel-Dreszler (Autor), Elzbieta Ciara (Autor), Dorota Jurkiewicz (Autor), Rafał Płoski (Autor), Joanna Cielecka-Kuszyk (Autor), Piotr Socha (Autor), Irena Jankowska (Autor)
• Format: Knjiga
• Izdano: Frontiers Media S.A., 2021-01-01T00:00:00Z.
• Teme: article
• Online pristup: Connect to this object online.

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...