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Crigler-Najjar syndrome type II: A rare case report of a young adult

Year: 2025
Type: article
Study design: Case Report
Abstract: Crigler-Najjar syndrome is a rare autosomal recessive disorder caused by mutations in the coding region of UGT1A1 gene resulting in grossly reduced hepatic activity of glucuronyl transferase. Absence or decrease activity of this enzyme leads to accumulation of unconjugated bilirubin in the body causes unconjugated hyperbilirubinemia.
Language: English
Field: Medicine
Open Access status: bronze
OpenAlex ID: W4411655109
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