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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| Autors principals: | , |
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| Format: | Artigo |
| Idioma: | Esloveno |
| Publicat: |
The Society for Children with Metabolic Disorders
2022-05-01
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| Col·lecció: | Slovenska pediatrija |
| Matèries: | |
| Accés en línia: |
http://www.slovenskapediatrija.si/Portals/0/Clanki/2022/Slovpediatr-2022-2-04en.pdf
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