CRIGLER- NAJJAR SYNDROME – CASE REPORT

Crigler-Najjar syndrome is a rare genetic disorder that causes severe unconjugated hyperbilirubinaemia. The syndrome is caused by a mutation in the UGT1A1 gene, which results in a deficiency or complete lack of the UGT1A1 enzyme, which is responsible for the conjugation of bilirubin. If the disease...

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Bibliographic Details
Main Authors: Anja Šelih, Manca Velkavrh
Format: Article
Language:Slovenian
Published: The Society for Children with Metabolic Disorders 2022-05-01
Series:Slovenska pediatrija
Subjects:
Online Access: http://www.slovenskapediatrija.si/Portals/0/Clanki/2022/Slovpediatr-2022-2-04en.pdf