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

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

Abstract 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 c...

詳細記述

書誌詳細
主要な著者: Laura Cozzi, Federica Nuti, Irene Degrassi, Daniela Civeriati, Giulia Paolella, Gabriella Nebbia
フォーマット: 論文
言語:English
出版事項: BMC 2022-04-01
シリーズ:Italian Journal of Pediatrics
主題:
p.Pro364Leu
UGT1A1
Neonatal severe unconjugated hyperbilirubinemia
Gilbert syndrome
Crigler-Najjar syndrome
Case report
オンライン･アクセス:https://doi.org/10.1186/s13052-022-01251-4

インターネット

https://doi.org/10.1186/s13052-022-01251-4

類似資料