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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Main Authors: | Anja Šelih (Author), Manca Velkavrh (Author) |
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Format: | Book |
Published: |
The Society for Children with Metabolic Disorders,
2022-05-01T00:00:00Z.
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