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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....
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| Publicado en: | BMC Pediatr |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
BioMed Central
2019
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6540546/ https://ncbi.nlm.nih.gov/pubmed/31142299 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12887-019-1555-y |
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