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...
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| Main Authors: | , , , , , |
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| Format: | Book |
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BMC,
2022-04-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |