A carregar...
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...
Na minha lista:
| Publicado no: | Front Pediatr |
|---|---|
| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Frontiers Media S.A.
2021
|
| Assuntos: | |
| Acesso em linha: | 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 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|