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

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...

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Main Authors: Xiaoxia Shi (Author), Sem Aronson (Author), Ahmed Sharif Khan (Author), Piter J. Bosma (Author)
Format: Book
Published: BMC, 2019-05-01T00:00:00Z.
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3rd Floor Main Library

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Call Number: A1234.567
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