Type II Crigler-Najjar syndrome: a case report and literature review
BackgroundCrigler-Najjar syndrome (CNS) is caused by mutations in uridine 5′-diphosphate glucuronyltransferase (UGT1A1) resulting in enzyme deficiency and hyperbilirubinemia. Type II CNS patients could respond to phenobarbital treatment and survive. This study presents a rare case of type II CNS.Cas...
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| Autors principals: | , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Frontiers Media S.A.
2024-05-01
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| Col·lecció: | Frontiers in Medicine |
| Matèries: | |
| Accés en línia: | https://www.frontiersin.org/articles/10.3389/fmed.2024.1354514/full |
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