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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...

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Bibliografski detalji
Glavni autori: Nair, Karippoth Mohandas, Lohse, Peter, Nampoothiri, Sheela
Format: Artigo
Jezik:Inglês
Izdano: Medknow Publications & Media Pvt Ltd 2012
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3491300/
https://ncbi.nlm.nih.gov/pubmed/23162302
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/0971-6866.100776
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