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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...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Hauptverfasser: Nair, Karippoth Mohandas, Lohse, Peter, Nampoothiri, Sheela
Format: Artigo
Sprache:Inglês
Veröffentlicht: Medknow Publications & Media Pvt Ltd 2012
Schlagworte:
Online Zugang: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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