Gilbert or Crigler–Najjar syndrome? Neonatal severe unconjugated hyperbilirubinemia with P364L UGT1A1 homozygosity

BACKGROUND: Several mutations of bilirubin uridine diphosphate-glucuronosyltransferase gene (UGT1A1) have been reported in patients with unconjugated hyperbilirubinemia. Few reports are available about the p.Pro364Leu mutation (P364L, c.1091C > T) in homozygous newborns. We describe the clinical,...

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Detalles Bibliográficos
Autores principales: Cozzi, Laura, Nuti, Federica, Degrassi, Irene, Civeriati, Daniela, Paolella, Giulia, Nebbia, Gabriella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9014633/
https://www.ncbi.nlm.nih.gov/pubmed/35436954
http://dx.doi.org/10.1186/s13052-022-01251-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9014633/
https://www.ncbi.nlm.nih.gov/pubmed/35436954
http://dx.doi.org/10.1186/s13052-022-01251-4

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