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Mutation Analysis in Crigler-Najjar Syndrome Type II—Case Report and Literature Review
Crigler-Najjar syndrome (CN) is a congenital defect in bilirubin conjugation due to complete or partial deficiency of uridine 5′-diphosphate-glucuronosyltransferase (UGT). It is of two types: CN type I and CN type II. Patients with CN type II present with indirect hyperbilirubinemia in adulthood. We...
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| 主要な著者: | , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2012
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3940311/ https://ncbi.nlm.nih.gov/pubmed/25755387 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/S0973-6883(11)60239-9 |
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