吉尔伯特综合征

参考文献

关键文献

Watson KJ, Gollan JL. Gilbert's syndrome. Baillieres Clin Gastroenterol. 1989 Apr;3(2):337-55. 摘要

Bosma PJ, Chowdhury JR, Bakker C, et al. The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome. N Engl J Med. 1995 Nov 2;333(18):1171-5.全文  摘要

参考文献

1. Watson KJ, Gollan JL. Gilbert's syndrome. Baillieres Clin Gastroenterol. 1989 Apr;3(2):337-55. 摘要

2. Berg CL, Crawford JM, Gollan JL. Bilirubin metabolism and the pathophysiology of jaundice. In: Schiff ER, Sorrell MF, Maddrey WC, eds. Schiff's diseases of the liver. Philadelphia, PA: Lippincott-Raven; 1999:147-92.

3. Kamal S, Abdelhakam S, Ghoraba D, et al. The frequency, clinical course, and health related quality of life in adults with Gilbert's syndrome: a longitudinal study. BMC Gastroenterol. 2019 Feb 4;19(1):22.全文  摘要

4. Singer S, Pilpel N, Pinhas-Hamiel O. Gilbert syndrome in patients with type 1 diabetes: prevalence, glycemic control, and microalbuminuria. Pediatr Diabetes. 2017 Dec;18(8):803-7. 摘要

5. Sticova E, Jirsa M. New insights in bilirubin metabolism and their clinical implications. World J Gastroenterol. 2013 Oct 14;19(38):6398-407.全文  摘要

6. Claridge LC, Armstrong MJ, Booth C, et al. Gilbert's syndrome. BMJ. 2011 Apr 19;342:d2293. 摘要

7. Saki F, Hemmati F, Haghighat M. Prevalence of Gilbert syndrome in parents of neonates with pathologic indirect hyperbilirubinemia. Ann Saudi Med. 2011 Mar-Apr;31(2):140-4.全文  摘要

8. Burchell B, Hume R. Molecular genetic basis of Gilbert's syndrome. J Gastroenterol Hepatol. 1999 Oct;14(10):960-6. 摘要

9. Takeuchi K, Kobayashi Y, Tamaki S, et al. Genetic polymorphisms of bilirubin uridine diphosphate-glucuronosyltransferase gene in Japanese patients with Crigler-Najjar syndrome or Gilbert's syndrome as well as in healthy Japanese subjects. J Gastroenterol Hepatol. 2004 Sep;19(9):1023-8. 摘要

10. Bosma PJ, Chowdhury JR, Bakker C, et al. The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome. N Engl J Med. 1995 Nov 2;333(18):1171-5.全文  摘要

11. Chowdhury RJ, Chowdhury RN, Jansen P. Bilirubin metabolism and its disorders. In: Boyer TD, Wright TL, Manns MP, eds. Zakim and Boyer's hepatology. Philadelphia, PA: Saunders Elsevier; 2006:1449-85.

12. King D, Armstrong MJ. Overview of Gilbert's syndrome. Drug Ther Bull. 2019 Feb;57(2):27-31. 摘要

13. Monaghan G, Ryan M, Seddon R, et al. Genetic variation in bilirubin UDP-glucuronosyltransferase gene promoter and Gilbert's syndrome. Lancet. 1996 Mar 2;347(9001):578-81. 摘要

14. Strassburg CP. Gilbert-Meulengracht’s syndrome and pharmacogenetics: is jaundice just the tip of the iceberg? Drug Metab Rev. 2010 Feb;42(1):168-81. 摘要

15. Minucci A, Concolino P, Giardina B, et al. Rapid UGT1A1 (TA)(n) genotyping by high resolution melting curve analysis for Gilbert’s syndrome diagnosis. Clin Chim Acta. 2010 Feb;411(3-4):246-9. 摘要

16. Muraca M, Fevery J. Influence of sex and sex steroids on bilirubin uridine diphosphate-glucuronosyltransferase activity of rat liver. Gastroenterology. 1984 Aug;87(2):308-13. 摘要

17. Thompson RPH. Jaundice. In: Warrell DA, Cox TM, Firth JD, eds. Oxford textbook of medicine. 5th ed. Oxford, UK: Oxford University Press; 2010.

18. Gollan JL, Bateman C, Billing BH. Effect of dietary composition on the unconjugated hyperbilirubinemia of Gilbert's syndrome. Gut. 1976 May;17(5):335-40.全文  摘要

19. Black M, Sherlock S. Treatment of Gilbert's syndrome with phenobarbitone. Lancet. 1970 Jun 27;1(7661):1359-61. 摘要

20. Kutz K, Kandler H, Gugler R, et al. Effect of clofibrate on the metabolism of bilirubin, bromosulphophthalein and indocyanine green and on the biliary lipid composition in Gilbert's syndrome. Clin Sci (Lond). 1984 Apr;66(4):389-97. 摘要

21. Ohkubo H, Okuda K, Iida S. Effects of corticosteroids on bilirubin metabolism in patients with Gilbert's syndrome. Hepatology. 1981 Mar-Apr;1(2):168-72. 摘要

22. Ehmer U, Lankisch TO, Erichsen TJ, et al. Rapid allelic discrimination by TaqMan PCR for the detection of the Gilbert's syndrome marker UGT1A1*28. J Mol Diagn. 2008 Nov;10(6):549-52.全文  摘要

23. Marques SC, Ikediobi ON. The clinical application of UGT1A1 pharmacogenetic testing: gene-environment interactions. Hum Genomics. 2010 Apr;4(4):238-49.全文  摘要

24. Bensinger TA, Maisels MJ, Carlson DE, et al. Effect of low caloric diet on endogenous carbon monoxide production: normal adults and Gilbert's syndrome. Proc Soc Exp Biol Med. 1973 Nov;144(2):417-9. 摘要

25. Gärtner U, Goeser T, Wolkoff AW. Effect of fasting on the uptake of bilirubin and sulfobromophthalein by the isolated perfused rat liver. Gastroenterology. 1997 Nov;113(5):1707-13. 摘要

26. Martin JF, Vierling JM, Wolkoff AW, et al. Abnormal hepatic transport of indocyanine green in Gilbert's syndrome. Gastroenterology. 1976 Mar;70(3):385-91. 摘要

27. Hauser SC, Gollan J. Bilirubin metabolism and hyperbilirubinaemic disorders. In: Millward-Sadler GH, Wright R, Arthur MJ, eds. Wright's liver and biliary disease. London: W.B. Saunders; 1992:318-51.

28. Očadlík I, Hlinštáková S, Oravec S. Relationship between unconjugated hyperbilirubinemia and lipoprotein spectrum. Neuro Endocrinol Lett. 2011;32(3):360-4. 摘要

29. Tapan S, Karadurmus N, Dogru T, et al. Decreased small dense LDL levels in Gilbert's syndrome. Clin Biochem. 2011 Mar;44(4):300-3. 摘要

30. Horsfall LJ, Nazareth I, Pereira SP, et al. Gilbert's syndrome and the risk of death: a population-based cohort study. J Gastroenterol Hepatol. 2013 Oct;28(10):1643-7. 摘要

31. Horsfall LJ, Rait G, Walters K, et al. Serum bilirubin and risk of respiratory disease and death. JAMA. 2011 Feb 16;305(7):691-7.全文  摘要

32. Kwon YJ, Lee YJ, Park BJ, et al. Total serum bilirubin and 8-year incident type 2 diabetes mellitus: the Korean Genome and Epidemiology Study. Diabetes Metab. 2018 Sep;44(4):346-53. 摘要

33. Wagner KH, Wallner M, Mölzer C, et al. Looking to the horizon: the role of bilirubin in the development and prevention of age-related chronic diseases. Clin Sci (Lond). 2015 Jul;129(1):1-25. 摘要

34. Innocenti F, Iyer L, Ratain MJ. Pharmacogenetics: a tool for individualizing antineoplastic therapy. Clin Pharmacokinet. 2000 Nov;39(5):315-25. 摘要

35. de Morais SM, Uetrecht JP, Wells PG. Decreased glucuronidation and increased bioactivation of acetaminophen in Gilbert's syndrome. Gastroenterology. 1992 Feb;102(2):577-86.全文  摘要

36. Ullrich D, Sieg A, Blume R, et al. Normal pathways for glucuronidation, sulphation and oxidation of paracetamol in Gilbert's syndrome. Eur J Clin Invest. 1987 Jun;17(3):237-40. 摘要

37. Rauchschwalbe SK, Zühlsdorf MT, Wensing G, et al. Glucuronidation of acetaminophen is independent of UGT1A1 promotor genotype. Int J Clin Pharmacol Ther. 2004 Feb;42(2):73-7. 摘要

38. Lee JS, Wang J, Martin M, et al. Genetic variation in UGT1A1 typical of Gilbert syndrome is associated with unconjugated hyperbilirubinemia in patients receiving tocilizumab. Pharmacogenet Genomics. 2011 Jul;21(7):365-74. 摘要

39. Deterding K, Grüngreiff K, Lankisch TO, et al. Gilbert's syndrome and antiviral therapy of hepatitis C. Ann Hepatol. 2009 Jul-Sep;8(3):246-50. 摘要

40. Jordovic J, Bojovic K, Simonovic-Babic J, et al. Significance of UGT1A1*28 genotype in patients with advanced liver injury caused by chronic hepatitis C. J Med Biochem. 2019 Mar 1;38(1):45-52.全文  摘要

41. Peer CJ, Sissung TM, Kim A, et al. Sorafenib is an inhibitor of UGT1A1 but is metabolized by UGT1A9: implications of genetic variants on pharmacokinetics and hyperbilirubinemia. Clin Cancer Res. 2012 Apr 1;18(7):2099-107.全文  摘要

42. Prueksaritanont T, Tang C, Qiu Y, et al. Effects of fibrates on metabolism of statins in human hepatocytes. Drug Metab Dispos. 2002 Nov;30(11):1280-7. 摘要

43. Jialal I, Siegel D. Statin intolerance in a patient with Gilberts syndrome and hypercholesterolemia. Exp Clin Endocrinol Diabetes Rep. 2016;3(01):e8-10.全文

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