Crigler-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.
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He et al. (2024) studied this question.
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