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Case report: multiple UGT1A1 gene variants in a patient with Crigler-Najjar syndrome
BACKGROUND: Inherited unconjugated hyperbilirubinemia is caused by variants in the gene UGT1A1 leading to Gilbert’s syndrome and Crigler-Najjar syndrome types I and II. These syndromes are differentiated on the basis of UGT1A1 residual enzymatic activity and its affected bilirubin levels and respons...
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| Vydáno v: | BMC Pediatr |
|---|---|
| Hlavní autoři: | , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
BioMed Central
2018
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6169020/ https://ncbi.nlm.nih.gov/pubmed/30285761 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12887-018-1285-6 |
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