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关键词:
- 高胆红素血症 /
- Crigler-Najjar综合征 /
- Gilbert综合征
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[1] 姚光弼.临床肝脏病学[M].2版.上海:科学技术出版社, 2011:502-511.
[2] Lijima S, Ohzeki T, Maruo Y.Hereditary sperocytosis coexisting with UDP-glucuronosyltransferase deficiency highly suggestive of Crigler-Najjar syndrome typeⅡ[J].Yousei Med J, 2011, 52(2):369-372.
[3] Ranjan P, Kohl S, Saxena R, et al.Mutation analysis in Crigler-Najjar syndrome type Ⅱ-case report and literature review[J].Clin Exp Hepatol, 2011, 1(3):204-206.
[4] 潘丽丽, 石岩石, 阴怀清, 等.Crigler-Najjar综合征Ⅱ型UGT1A1基因突变一例报道暨文献复习[J].中国新生儿科杂志, 2013, 28(3):180-183.
[5] Zheng B X, Hu G R, Yu J, et al.Crigler-Najjar syndrome typeⅡ in a Chinese boy resulting from three mutations in the bilirubin uridine 5'-diphosphate glucuronosyltransferase(UGT1A1) gene and a family genetic analysis[J].BMC Pediatr, 2014, 14(15):267.
[6] Nair K M, Loshe P, Nampoothiri S.Crigler-Najjar syndrome type Ⅱ:novel UGT1A1 mutation[J].Indian J Hum Genet, 2012, 18(2):233-234.
[7] Bulmer A C, Verkade H J, Wagner K H.Bilinubin and beyond:a review of lipid status in Gilbert, syndrome and its relevance to cardiovascular disease protection[J].Progress Lipid Res, 2013, 52(2):193-205.
[8] 赵川, 陈虹, 李莉.Gilbert综合征合并Ⅱ型Crigler-Najjar综合征1例[J].疑难病杂志, 2013, 13(6):643.
[9] 陈光榆, 吴建新, 黄健, 等.Crigler-Najjar综合征Ⅱ型患者及其家系UGT1A1基因突变的分析[J].中国临床医学, 2007, 14(1):13-16.
[10] Holstein A, Plaschke A, Lohse P, et al.Successful photo-and phenobarbital therapy during pregnancy in a woman with Crigler-Najjar syndrome type Ⅱ[J].Scand J Gastroenterol, 2005, 40(9):1124-1126.
[11] Sakakibara Y, Katoh M, Kondo Y, et al.Effects of Phenobarbital on Expression of UDP-Glucuronosyltransferase 1a6 and 1a7 in Rat Brain[J].Drug Metab Dispos, 2016, 44(3):370-377.
[12] Kraemer D, Klinker H.Crigler-Najjar syndrome type Ⅱ in a caucasian patient resulting from two mutations in the bilirubin uridine5'-diphosphate-glucuronosyltransferase(UGT1A1) gene[J].J Hepatol, 2002, 36(5):706-707.
[13] Liu W L, Li F, He Z X, et al.Analysis of bilirubin UDPglucuronosyltransferase gene mutations in an unusual Crigler-Najjar syndrome patient[J].Mol Med Report, 2012, 6(3):667-669.
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