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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....
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2019
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Materias: | |
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 |