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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Detalles Bibliográficos
Autores principales: Gailite, Linda, Rots, Dmitrijs, Pukite, Ieva, Cernevska, Gunta, Kreile, Madara
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6169020/
https://www.ncbi.nlm.nih.gov/pubmed/30285761
http://dx.doi.org/10.1186/s12887-018-1285-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6169020/
https://www.ncbi.nlm.nih.gov/pubmed/30285761
http://dx.doi.org/10.1186/s12887-018-1285-6

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