References
- Stoll BJ, Kliegman RM. Digestive system disorders. In: Behrman RE, Kliegman RM, Jenson HB, editors. Nelson Textbook of Pediatrics. 17th ed. Philadelphia: WB Saunders Co, 2004:588-99
- Arias IM, Gartner LM, Seifter S. Prolonged neonatal unconjugated hyperbilirubinemia associated with breast-feeding and a steroid, pregnane-3(alpha), 20(beta)-diol, in maternal milk that inhibits glucuronide formation in vitro. J Clin Invest 1964;43:2037-47 https://doi.org/10.1172/JCI105078
- Newman AJ, Gross S. Hyperbilirubinemia in breast-fed infants. Pediatrics 1963;32:995-1001
- Grunebäum E, Amir J, Merlob P, Mimouni M, Varsano I. Breast milk jaundice: natural history, familial incedence and late neurodevelopmental outcome of the infant. Eur J Pediatr 1991;150:267-70 https://doi.org/10.1007/BF01955528
- Sato H, Adachi Y, Koiwai O. The genetic basis of Gilbert's syndrome. Lancet 1996;347:557-8
- Aono S, Yamada Y, Keino H. Identification of defect in the genes for bilirubin UDP-glucuronosyltransferase in a patient with Crigler-Najjar syndrome type II. Biochem Biophys Res Commun 1993;197:1239-44 https://doi.org/10.1006/bbrc.1993.2610
- Burchell B, Hume R. Molecular genetic basis of Gilbert's syndrome. J Gastroenterol Hepatol 1999;14:960-6 https://doi.org/10.1046/j.1440-1746.1999.01984.x
- Maruo Y, Nishizawa K, Sato H, Doida Y, Shimada M. Association of neonatal hyperbilirubinemia with bilirubin UDP-glucuronosyltransferase polymorphism. Pediatrics 1999;103:1224-7 https://doi.org/10.1542/peds.103.6.1224
- Huang CS, Chang PF, Huang MJ, Chen ES, Hung KL, Tsou KI. Relationship between bilirubin UDP-glucuronosyltransferase 1A1 gene and neonatal hyperbilirubinemia. Pediatr Res 2002;52:601-5 https://doi.org/10.1203/00006450-200210000-00022
- Hong KW, Kang H, Kim IS, Kim JS, Kim ER, Lee HJ, et al. Polymorphism of UDP-glucuronosyltransferase gene (UGT1A1) of neonatal hyperbilirubinemia in Korea. Korean J Pediatr 2004;47:18-23
- Bosma PJ, Chowdhury JR, Bakker C, Gantla S, de Boer A, Oostra BA, et al. The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome. N Engl J Med 1995;333:1171-5 https://doi.org/10.1056/NEJM199511023331802
- Monaghan G, Ryan M, Seddon R, Hume R, Burchell B. Genetic variation in bilirubin UDP-glucuronosyltransferase gene promotor and Gilbert's syndrome. Lancet 1996;347:578-81 https://doi.org/10.1016/S0140-6736(96)91273-8
- Maruo Y, Nishizawa K, Sato H, Sawa H, Shimada Morimi. Prolonged unconjugated hyperbilirubinemia associated with breast milk and mutations of the bilirubin uridine diphosphate-glucuronosyltransferase gene. Pediatrics 2000;106:E59 https://doi.org/10.1542/peds.106.1.59
- Jeon JD, Jo HS, Lee SG, Byun SH, Yeo JS, Ahn YH, et al. UDP-glucuronosyltransferase 1A1 gene polymorphism in severe neonatal hyperbilirubinemia. Korean Soc Neonatol 2007;14:46-52
- MacMahon JR, Stevenson DK, Oski FA. Bilirubin metabolism. In: Taeusch HM, Ballard RA, editors. Avery disease of the newborn. 7th ed. Philadelphia: WB Saunders Co, 1998:995-1002
- Bevan BR, Holton JB. Inhibition of bilirubin conjugation in rat liver slices by free fatty acids, with relevance to the problem of breast milk jaundice. Clin Chim Acta 1972;41:101-7 https://doi.org/10.1016/0009-8981(72)90501-3
- Bosma PJ, Seppen J, Goldhoorn B, Bakker C, Oude Elferink RPJ, Chowdhury JR, et al. Bilirubin UDP-glucuronosyltransferase 1 is the only relevant bilirubin glucuronidating isoform in man. J Biol Chem 1994;269:17960-4
- Ritter JK, Crawford JM, Owens IS. Cloning of two human liver bilirubin UDP-glucunosyltransferase cDNA with expression in Cos-1 cells. J Biol Chem 1991;266:1043-7
- Maisels MJ. Bilirubin; on understanding and influencing its metabolism in the newborn infant. Pediatr Clin North Am 1972;19:447-501 https://doi.org/10.1016/S0031-3955(16)32710-9
- Kadakol A, Ghosh SS, Sappal BS, Sharma G, Chowdhury JR, Chowdhury NR. Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype. Hum Mutat 2000;16:297-306 https://doi.org/10.1002/1098-1004(200010)16:4<297::AID-HUMU2>3.0.CO;2-Z
- Yamamoto K, Sato H, Fujiyama Y, Doida Y, Bamba T. Contribution of two missense mutations (Gly71Arg and Y486D) of the bilirubin UDP glycosyltransferase (UGT1A1) gene to phenotypes of Gilbert's syndrome and Crigler-Najjar syndrome type II. Biochim Biophys Acta 1998;1406:267-73 https://doi.org/10.1016/S0925-4439(98)00013-1
- Kren BT, Parashar B, Bandyopadhyay P, Chowdhury NR, Chowdhury JR, Steer CJ. Correction of the UDP-glucuronosyltransferase gene defect in the gunn rat model of Crigler-Najjar syndrome type I with a chimeric oligonucleotide. Proc Natl Acad Sci USA 1999;96:10349-54 https://doi.org/10.1073/pnas.96.18.10349
- Raijmakers MT, Jansen PL, Steegers EA, Peters WH. Association of human liver bilirubin UDP-glucuronyltransferase activity with a polymorphism in the promoter region of the UGT1A1 gene. J Hepatol 2000;33:348-51 https://doi.org/10.1016/S0168-8278(00)80268-8
- Koiwai O, Nishizawa M, Hasada K, Aono S, Adachi Y, Mamiya N, et al. Gilbert's syndrome is caused by a heterozygous missense mutation in the gene for bilirubin UDPglucuronosyltransferase. Hum Mol Genet 1995;4:1183-6 https://doi.org/10.1093/hmg/4.7.1183
- Coelho H, Costa E, Vieira E, Branca R, dos Santos R, Barbot J. A new case of (TA)8 allele in the UGT1A1 gene promoter in a caucasian girl with Gilber syndrome. Pediatr Hematol Oncol 2004;21:371-4 https://doi.org/10.1080/08880010490457033
- Maruo Y, D'Addario C, Mori A, Iwai M, Takahashi H, Sato H, et al. Two linked polymorphic mutations (A(TA)7TAA and T-3279G) of UGT1A1 as the principal cause of Gilbert syndrome. Hum Genet 2004;115:525-6 https://doi.org/10.1007/s00439-004-1183-x
- Takeuchi K, Kobayashi Y, Tamaki S, Ishihara T, Maruo Y, Araki J, 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;19:1023-8 https://doi.org/10.1111/j.1440-1746.2004.03370.x
- Yamamoto A, Nishio H, Waku S, Yokoyama N, Yonetani M, Uetani Y, et al. Gly71Arg mutation of the bilirubin UDPglucuronosyltransferase 1A1 gene is associated with neonatal hyperbilirubinemia in the japanese population. Kobe J Med Sci 2002;48:73-7
- Huang MJ, Kug KE, Teng Hc, Tang KS, Weng HW, Hung CS. Risk factors for severe hyperbilirubinemia in neonates. Pediatr Res 2004;56:682-9 https://doi.org/10.1203/01.PDR.0000141846.37253.AF
- Kang H, Lim JH, Kim JS, Kim ER, Kim SD, Lee HJ, et al. The association of neonatal hyperbilirubinemia with UGT1A1 and CYP1A2 gene polymorphism in Korean neonate. Korean J Pediatr 2005;48:35-41
- Sutomo R, Talib NA, Yusoff NM, Van Rostenberghe H, Sadewa AH, Sunarti, et al. Screening for G71R mutation of the UGT1A1 gene in the Javanese-Indonesian and Malay-Malaysian populations. Pediatr Int 2004;46:565-9 https://doi.org/10.1111/j.1442-200x.2004.01959.x
- Beutler E, Gelbart T, Demina A. Radical variability in the UDP-glucuronosyltransferase 1(UGT1A1) promotor: A balanced polymorphism for regulation of bilirubin metabolism. Proc Natl Acad Sci USA 1998;95:8170-4
- Kim YH, Yeon JE, Jung GM, Kim HJ, Kim JS, Byun KS, et al. A study of polymorphism in UDP-glucuronosyltransferase 1 (UGT-1A1) promoter gene in Korean patients with Gilbert's syndrome. Korean J Hepatol 2002;8:132-8
- Bancroft JD, Kreamer B, Gourley GR. Gilbert syndrome accelerates development of neonatal jaundice. J Pediatr 1998;132:656-60 https://doi.org/10.1016/S0022-3476(98)70356-7
- Monaghan G, McLellan A, MCGreeban A, Li Volti S, Mollica F, Salemi I, et al. Gilbert's syndrome is a contributory factor in prolonged unconjugated hyperbilirubinemia of the newborn. J Pediatr 1999;134:441-6 https://doi.org/10.1016/S0022-3476(99)70201-5