Clinical and molecular study of Egyptian pediatric patients with Crigler-Najjar syndrome

Clinical and molecular study of Egyptian pediatric patients with Crigler-Najjar syndrome

Abstract Background Crigler-Najjar syndrome (CNS) is a rare autosomal recessive inherited disorder caused by uridine diphosphate-glucuronosyltransferase (UGT) enzyme deficiency. The enzyme is encoded by the uridine diphosphate-glucuronosyltransferase 1A1 (UGT1A1) gene. This study aims to examine the...

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Bibliographic Details
Main Authors: Mohammed A. Khedr, Behairy E. Behairy, Hosam El Din M. Basiouny, Nora A. Zeitoon, Ashraf Yousif Elfert, Haidy Mohammed Zakaria, Tamer H. A. Ammar
Format: Article
Language:English
Published: SpringerOpen 2025-06-01
Series:Egyptian Liver Journal
Subjects:
CNS types I and II
Gene sequencing
Homozygous mutations
Indirect hyperbilirubinemia
Jaundice
Mutation analysis
Online Access:https://doi.org/10.1186/s43066-025-00428-w
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https://doi.org/10.1186/s43066-025-00428-w

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