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

• Päätekijät: Patryk Lipiński (Tekijä), Maja Klaudel-Dreszler (Tekijä), Elzbieta Ciara (Tekijä), Dorota Jurkiewicz (Tekijä), Rafał Płoski (Tekijä), Joanna Cielecka-Kuszyk (Tekijä), Piotr Socha (Tekijä), Irena Jankowska (Tekijä)
• Aineistotyyppi: Kirja
• Julkaistu: Frontiers Media S.A., 2021-01-01T00:00:00Z.
• Aiheet: article
• Linkit: 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...