Gilbert syndrome

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.Full text  Abstract

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

Kwo PY, Cohen SM, Lim JK. ACG clinical guideline: evaluation of abnormal liver chemistries. Am J Gastroenterol. 2017 Jan;112(1):18-35.Full text  Abstract

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

2. 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.Full text  Abstract

3. Kang LL, Liu ZL, Zhang HD. Gilbert's syndrome coexisting with hereditary spherocytosis might not be rare: Six case reports. World J Clin Cases. 2020 May 26;8(10):2001-8.Full text  Abstract

4. Shrestha O, Khadwal AR, Singhal M, et al. A high frequency of Gilbert syndrome (UGT1A1*28/*28) and associated hyperbilirubinemia but not cholelithiasis in adolescent and adult north Indian patients with transfusion-dependent β-thalassemia. Ann Hematol. 2020 Sep;99(9):2019-26. Abstract

5. 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. Abstract

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

7. Owens D, Evans J. Population studies on Gilbert's syndrome. J Med Genet. 1975 Jun;12(2):152-6.Full text  Abstract

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

9. 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.Full text  Abstract

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

11. 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. Abstract

12. 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.Full text  Abstract

13. National Library of Medicine. UGT1A1 UDP glucuronosyltransferase family 1 member A1 [Homo sapiens (human)]. Aug 2022 [internet publication].Full text

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

15. 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. Abstract

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. Abstract

17. 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. Abstract

18. 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. Abstract

19. Kwo PY, Cohen SM, Lim JK. ACG clinical guideline: evaluation of abnormal liver chemistries. Am J Gastroenterol. 2017 Jan;112(1):18-35.Full text  Abstract

20. 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.Full text  Abstract

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

22. American College of Medical Genetics and Genomics. Five things physicians and patients should question. Choosing Wisely, an initiative of the ABIM Foundation. 2021 ​[internet publication].Full text

23. 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.Full text  Abstract

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. Abstract

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. Abstract

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. Abstract

27. 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. Abstract

28. 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.Full text  Abstract

29. 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. Abstract

30. 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.Full text  Abstract

31. 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. Abstract

32. 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. Abstract

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

34. 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.Full text  Abstract

35. 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. Abstract

36. 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. Abstract

37. 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. Abstract

38. 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.Full text  Abstract

39. 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. Abstract

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