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Spectrum of UGT1A1 Variations in Chinese Patients with Crigler-Najjar Syndrome Type II
Crigler–Najjar Syndrome type II (CNS-II) is an autosomal recessive hereditary condition of unconjugated hyperbilirubinemia without hemolysis, with bilirubin levels ranging from 102.6 μmol/L to 342 μmol/L. CNS-II is caused by a deficiency of UDP-glucuronyl transferase (UGT), which is encoded by the U...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Public Library of Science
2015
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4439166/ https://www.ncbi.nlm.nih.gov/pubmed/25993113 http://dx.doi.org/10.1371/journal.pone.0126263 |