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Article

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

Italian journal of pediatrics - 18 Apr 2022

Cozzi Laura, Nuti Federica, Degrassi Irene, Civeriati Daniela, Paolella Giulia, Nebbia Gabriella

Abstract excerpt

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, laboratory and therapeutic approach in two Chinese neonates with severe jaundice, homozygous for the P364L mutation....

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Identifiers

PMID: 35436954
DOI: 10.1186/s13052-022-01251-4
PMCID: PMC9014633

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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