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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...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Front Pediatr |
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| Κύριοι συγγραφείς: | , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Frontiers Media S.A.
2021
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| Θέματα: | |
| Διαθέσιμο Online: | 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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