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

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...

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Detalles Bibliográficos
Autores principales: Lipiński, Patryk, Klaudel-Dreszler, Maja, Ciara, Elzbieta, Jurkiewicz, Dorota, Płoski, Rafał, Cielecka-Kuszyk, Joanna, Socha, Piotr, Jankowska, Irena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7838534/
https://www.ncbi.nlm.nih.gov/pubmed/33520900
http://dx.doi.org/10.3389/fped.2020.616582

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7838534/
https://www.ncbi.nlm.nih.gov/pubmed/33520900
http://dx.doi.org/10.3389/fped.2020.616582

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