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

• Главные авторы: Xiaoxia Shi (Автор), Sem Aronson (Автор), Ahmed Sharif Khan (Автор), Piter J. Bosma (Автор)
• Формат: ‌
• Опубликовано: BMC, 2019-05-01T00:00:00Z.
• Предметы: article
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Abstract 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 ac...