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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書誌詳細
出版年:Hepatology
主要な著者: 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.
フォーマット: Artigo
言語:Inglês
出版事項: 2020
主題:
Article
オンライン･アクセス: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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