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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Format: | Book |
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BMC,
2019-05-01T00:00:00Z.
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Call Number: |
A1234.567 |
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