Liver Transplantation in a Child With Crigler-Najjar Syndrome Type I: A Case Report With Review of the Literature

Crigler-Najjar syndrome (CNS) type I is a rare genetic disease caused by mutations in the UGT1A1 gene, resulting in a lack of Uridine 5'-diphospho-glucuronosyltransferase (UDPGT) enzyme. This enzyme is responsible for the glucuronidation and elimination of unconjugated bilirubin from the body....

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Detalles Bibliográficos
Autores principales: Alharbi, Faisal A, Al-Shammari, Nawaf R, Aloqeely, Khaled M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10433782/
https://www.ncbi.nlm.nih.gov/pubmed/37602038
http://dx.doi.org/10.7759/cureus.42064

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10433782/
https://www.ncbi.nlm.nih.gov/pubmed/37602038
http://dx.doi.org/10.7759/cureus.42064

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