A novel UGT1A1 gene mutation causing severe unconjugated hyperbilirubinemia: a case report

BACKGROUND: Crigler-Najjar syndrome (CNs) presents as unconjugated hyperbilirubinemia, as a result of UGT1A1 deficiency, and can be categorized in a severe (type I) and mild (type II) phenotype. CNs type II patients usually benefit from phenobarbital treatment that induces residual UGT1A1 activity....

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Detalles Bibliográficos
Autores principales: Shi, Xiaoxia, Aronson, Sem, Khan, Ahmed Sharif, Bosma, Piter J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6540546/
https://www.ncbi.nlm.nih.gov/pubmed/31142299
http://dx.doi.org/10.1186/s12887-019-1555-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6540546/
https://www.ncbi.nlm.nih.gov/pubmed/31142299
http://dx.doi.org/10.1186/s12887-019-1555-y

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