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...
| Հիմնական հեղինակներ: | , , , , , |
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| Ձևաչափ: | Հոդված |
| Լեզու: | English |
| Հրապարակվել է: |
BMC
2022-04-01
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| Շարք: | Italian Journal of Pediatrics |
| Խորագրեր: | |
| Առցանց հասանելիություն: | https://doi.org/10.1186/s13052-022-01251-4 |