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Crigler-Najjar syndrome type 2: Novel UGT1A1 mutation
Crigler-Najjar syndrome type 2 is a rare cause for persistent unconjugated hyperbilirubinemia, inherited in an autosomal recessive manner. Even though it is compatible with normal life span, in the absence of prompt suspicion and intensive management it can prove fatal not only in the neonatal perio...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Medknow Publications & Media Pvt Ltd
2012
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3491300/ https://www.ncbi.nlm.nih.gov/pubmed/23162302 http://dx.doi.org/10.4103/0971-6866.100776 |