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...
Salvato in:
| Autori principali: | , |
|---|---|
| Natura: | Artigo |
| Lingua: | Esloveno |
| Pubblicazione: |
The Society for Children with Metabolic Disorders
2022-05-01
|
| Serie: | Slovenska pediatrija |
| Soggetti: | |
| Accesso online: |
http://www.slovenskapediatrija.si/Portals/0/Clanki/2022/Slovpediatr-2022-2-04en.pdf
|
| Tags: |
Nessun Tag, puoi essere il primo ad aggiungerne!!
|