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胆红素尿苷二磷酸葡萄糖醛酸转移酶多态性与新生儿黄疸

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作者 沙彬 周文浩
机构地区 复旦大学附属儿科医院
出处 《中国当代儿科杂志》 CAS CSCD 2007年第5期510-513,共4页 Chinese Journal of Contemporary Pediatrics
关键词 尿苷二磷酸葡萄糖醛酸转移酶 酶多态性 胆红素 新生儿黄疸 结合反应 亚家族 微粒体膜 转化作用
分类号 R722.1 [医药卫生—儿科]
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  • 1石树中 诸福棠 等.新生儿黄疸.实用儿科学（第6版）[M].北京:人民卫生出版社,1995.467-467.
  • 2[1]Powell LW, Hemingway E, Billing BH, Sherlock S. Idiopathic unconjugated hyperbilirubinemia (Gilbert's syndrome). A study of 42 families. N Engl JMed 1967; 277:1108-1112
  • 3[2]Bosma PJ. Inherited disorders of bilirubin metabolism. J Hepatol 2003; 38:107-117
  • 4[3]Sampietro M, Lupica L, Perrero L, Comino A, Martinez di Montemuros F, Cappellini MD, Fiorelli G. The expression of uridine diphosphate glucuronosyltransferase gene is a major determinant of bilirubin level in heterozygous beta-thalassaemia and in glucose-6-phosphate dehydrogenase deficiency. Br J Haematol 1997; 99:437-439
  • 5[4]Doyama H, Okada T, Kobayashi T, Suzuki A, Takeda Y,Mabuchi H. Effect of bilirubin UDP glucuronosyltransferase 1gene TATA box genotypes on serum bilirubin concentrations in chronic liver injuries. Hepatology 2000; 32:563-568
  • 6[5]Jansen PL, Bosma PJ, Bakker C, Lems SP, Slooff MJ, Haagsma EB. Persistent unconjugated hyperbilirubinemia after liver transplantation due to an abnormal bilirubin UDP-glucuronosyltransferase gene promoter sequence in the donor.J Hepatol 1997; 27:1-5
  • 7[6]Bosma PJ, Chowdhury JR, Bakker C, Gantla S, de Boer A,Oostra BA, Lindhout D, Tytgat GN, Jansen PL, Oude Elferink RP. The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome. N EnglJ Med 1995; 333:1171-1175
  • 8[7]Koiwai O, Nishizawa M, Hasada K, Aono S, Adachi Y,Mamiya N, Sato H. Gilbert's syndrome is caused by a heterozygous missense mutation in the gene for bilirubin UDP-glucuronosyltransferase. Hum Mol Genet 1995; 4:1183-1186
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  • 10[9]Clarke DJ, Moghrabi N, Monaghan G, Cassidy A, Boxer M, Hume R, Burchell B . Genetic defects of the UDP-glucuronosyltransferase-1 (UGT1) gene that cause familial non-haemolytic unconjugated hyperbilirubinaemias. Clin Chim Acta 1997; 266:63-74

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中国当代儿科杂志
2007年 第5期

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