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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Bibliografiska uppgifter
I publikationen:Front Pediatr
Huvudupphovsmän: Lipiński, Patryk, Klaudel-Dreszler, Maja, Ciara, Elzbieta, Jurkiewicz, Dorota, Płoski, Rafał, Cielecka-Kuszyk, Joanna, Socha, Piotr, Jankowska, Irena
Materialtyp: Artigo
Språk:Inglês
Publicerad: Frontiers Media S.A. 2021
Ämnen:
Pediatrics
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC7838534/
https://ncbi.nlm.nih.gov/pubmed/33520900
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fped.2020.616582
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