Crigler-Najjar Syndrome Type 1: Pathophysiology, Natural History, and Therapeutic Frontier

BACKGROUND AND AIMS: We describe the pathophysiology, treatment, and outcome of Crigler-Najjar type 1 syndrome (CN1) in 28 UGT1A1 c.222C>A homozygotes followed for 520 aggregate patient-years. APPROACH AND RESULTS: Unbound (“free”) bilirubin (B(f)) was measured in patient sera to characterize the...

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Pubblicato in:Hepatology
Autori principali: Strauss, Kevin A., Ahlfors, Charles E., Soltys, Kyle, Mazareigos, George V., Young, Millie, Bowser, Lauren E., Fox, Michael D., Squires, James E., McKiernan, Patrick, Brigatti, Karlla W., Puffenberger, Erik G., Carson, Vincent J., Vreman, Hendrik J.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2020
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7909716/
https://ncbi.nlm.nih.gov/pubmed/31553814
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/hep.30959
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