- A Case of Crigler-Najjar Syndrome Type 2 Diagnosed Using Genetic Mutation Analysis
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Kim SY, Lee SH, Koh H, Lee ST, Ki CS, Kim JW, Chung KS
- KMID: 2275358
- Korean J Pediatr Gastroenterol Nutr.
- 2008 Sep;11(2):219-222.
Crigler-Najjar syndrome is a rare inherited disease associated with unconjugated hyperbilirubinemia. It is inherited via an autosomal recessive pattern and is caused by mutation in one of the five exons... -
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- Hereditary Spherocytosis Coexisting with UDP-Glucuronosyltransferase Deficiency Highly Suggestive of Crigler-Najjar Syndrome Type II
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Iijima S, Ohzeki T, Maruo Y
- KMID: 1779679
- Yonsei Med J.
- 2011 Mar;52(2):369-372.
- doi: 10.3349/ymj.2011.52.2.369
Patients with co-existing hereditary spherocytosis (HS) and UDP-glucuronosyltransferase 1A1 (UGT1A1) deficiency as Gilbert's syndrome (GS) have been reported, and previous studies have demonstrated an increased risk for developing gallstones in... -
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- Molecular Analysis of the UGT1A1 Gene in Korean Patients with Crigler-Najjar Syndrome Type II
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Ko JS, Chang JY, Moon JS, Yang HR, Seo JK
- KMID: 2315463
- Pediatr Gastroenterol Hepatol Nutr.
- 2014 Mar;17(1):37-40.
PURPOSE: Crigler-Najjar syndrome type II (CN-2) is characterized by moderate non-hemolytic unconjugated hyperbilirubinemia as a result of severe deficiency of bilirubin uridine diphosphate-glucuronosyltransferase (UGT1A1). The study investigated the mutation spectrum... -
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