메뉴 건너뛰기




Volumn 154, Issue 4, 2009, Pages 616-619

Fatal Kernicterus in a Girl Deficient in Glucose-6-Phosphate Dehydrogenase: A Paradigm of Synergistic Heterozygosity

Author keywords

[No Author keywords available]

Indexed keywords

BILIRUBIN; GLUCOSE 6 PHOSPHATE DEHYDROGENASE; GLUCURONOSYLTRANSFERASE; PHENOBARBITAL;

EID: 62649100263     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jpeds.2008.10.049     Document Type: Article
Times cited : (38)

References (28)
  • 1
    • 0027940492 scopus 로고
    • G6PD deficiency
    • Beutler E. G6PD deficiency. Blood 84 (1994) 3613-3636
    • (1994) Blood , vol.84 , pp. 3613-3636
    • Beutler, E.1
  • 2
    • 10344221577 scopus 로고    scopus 로고
    • Glucose-6-phosphate dehydrogenase deficiency: a hidden risk for kernicterus
    • Kaplan M., and Hammerman C. Glucose-6-phosphate dehydrogenase deficiency: a hidden risk for kernicterus. Semin Perinatol 28 (2004) 356-364
    • (2004) Semin Perinatol , vol.28 , pp. 356-364
    • Kaplan, M.1    Hammerman, C.2
  • 3
    • 33750083939 scopus 로고    scopus 로고
    • Glucose 6-phosphate dehydrogenase deficiency: from genotype to phenotype
    • Luzzatto L. Glucose 6-phosphate dehydrogenase deficiency: from genotype to phenotype. Haematologica 91 (2006) 1303-1306
    • (2006) Haematologica , vol.91 , pp. 1303-1306
    • Luzzatto, L.1
  • 4
    • 37549026846 scopus 로고    scopus 로고
    • Glucose-6-phosphate dehydrogenase deficiency
    • Cappellini M.D., and Fiorelli G. Glucose-6-phosphate dehydrogenase deficiency. Lancet 371 (2008) 64-74
    • (2008) Lancet , vol.371 , pp. 64-74
    • Cappellini, M.D.1    Fiorelli, G.2
  • 5
    • 0024951961 scopus 로고
    • Glucose-6-phosphate dehydrogenase deficiency
    • WHO Working Group
    • WHO Working Group. Glucose-6-phosphate dehydrogenase deficiency. Bull World Health Organ 67 (1989) 601-611
    • (1989) Bull World Health Organ , vol.67 , pp. 601-611
  • 8
    • 0015356042 scopus 로고
    • Hemolytic crises of favism in Sicilian females heterozygous for G-6-PD deficiency
    • Russo G., Mollica F., Pavone L., and Schiliro G. Hemolytic crises of favism in Sicilian females heterozygous for G-6-PD deficiency. Pediatrics 49 (1972) 854-859
    • (1972) Pediatrics , vol.49 , pp. 854-859
    • Russo, G.1    Mollica, F.2    Pavone, L.3    Schiliro, G.4
  • 9
    • 0034964623 scopus 로고    scopus 로고
    • Acute hemolysis and severe neonatal hyperbilirubinemia in glucose-6-phosphate dehydrogenase-deficient heterozygotes
    • Kaplan M., Hammerman C., Vreman H.J., Stevenson D.K., and Beutler E. Acute hemolysis and severe neonatal hyperbilirubinemia in glucose-6-phosphate dehydrogenase-deficient heterozygotes. J Pediatr 139 (2001) 137-140
    • (2001) J Pediatr , vol.139 , pp. 137-140
    • Kaplan, M.1    Hammerman, C.2    Vreman, H.J.3    Stevenson, D.K.4    Beutler, E.5
  • 10
    • 0036772172 scopus 로고    scopus 로고
    • Hemolysis and hyperbilirubinemia in an African American neonate heterozygous for glucose-6-phosphate dehydrogenase deficiency
    • Herschel M., Ryan M., Gelbart T., and Kaplan M. Hemolysis and hyperbilirubinemia in an African American neonate heterozygous for glucose-6-phosphate dehydrogenase deficiency. J Perinatol 22 (2002) 577-579
    • (2002) J Perinatol , vol.22 , pp. 577-579
    • Herschel, M.1    Ryan, M.2    Gelbart, T.3    Kaplan, M.4
  • 12
    • 15044357752 scopus 로고    scopus 로고
    • An Ashkenazi Jewish woman presenting with favism
    • Lim F., Vulliamy T., and Abdalla S.H. An Ashkenazi Jewish woman presenting with favism. J Clin Pathol 58 (2005) 317-319
    • (2005) J Clin Pathol , vol.58 , pp. 317-319
    • Lim, F.1    Vulliamy, T.2    Abdalla, S.H.3
  • 13
    • 0014360532 scopus 로고
    • Special modifications of the fluorescent screening method for glucose-6-phosphate dehydrogenase deficiency
    • Beutler E., and Mitchell M. Special modifications of the fluorescent screening method for glucose-6-phosphate dehydrogenase deficiency. Blood 32 (1968) 816-818
    • (1968) Blood , vol.32 , pp. 816-818
    • Beutler, E.1    Mitchell, M.2
  • 14
    • 0033015263 scopus 로고    scopus 로고
    • Predictive ability of a predischarge hour-specific serum bilirubin for subsequent significant hyperbilirubinemia in healthy term and near-term newborns
    • Bhutani V.K., Johnson L., and Sivieri E.M. Predictive ability of a predischarge hour-specific serum bilirubin for subsequent significant hyperbilirubinemia in healthy term and near-term newborns. Pediatrics 103 (1999) 6-14
    • (1999) Pediatrics , vol.103 , pp. 6-14
    • Bhutani, V.K.1    Johnson, L.2    Sivieri, E.M.3
  • 16
    • 33748964785 scopus 로고    scopus 로고
    • Incidence and causes of severe neonatal hyperbilirubinemia in Canada
    • Sgro M., Campbell D., and Shah V. Incidence and causes of severe neonatal hyperbilirubinemia in Canada. CMAJ 175 (2006) 587-590
    • (2006) CMAJ , vol.175 , pp. 587-590
    • Sgro, M.1    Campbell, D.2    Shah, V.3
  • 17
    • 34548805817 scopus 로고    scopus 로고
    • Prospective surveillance study of severe hyperbilirubinaemia in the newborn in the UK and Ireland
    • Manning D., Todd P., Maxwell M., and Jane Platt M. Prospective surveillance study of severe hyperbilirubinaemia in the newborn in the UK and Ireland. Arch Dis Child Fetal Neonatal Ed 92 (2007) F342-F346
    • (2007) Arch Dis Child Fetal Neonatal Ed , vol.92
    • Manning, D.1    Todd, P.2    Maxwell, M.3    Jane Platt, M.4
  • 19
    • 0030691028 scopus 로고    scopus 로고
    • Gilbert syndrome and glucose-6-phosphate dehydrogenase deficiency: a dose-dependent genetic interaction crucial to neonatal hyperbilirubinemia
    • Kaplan M., Renbaum P., Levy-Lahad E., Hammerman C., Lahad A., and Beutler E. Gilbert syndrome and glucose-6-phosphate dehydrogenase deficiency: a dose-dependent genetic interaction crucial to neonatal hyperbilirubinemia. Proc Natl Acad Sci USA 94 (1997) 12128-12132
    • (1997) Proc Natl Acad Sci USA , vol.94 , pp. 12128-12132
    • Kaplan, M.1    Renbaum, P.2    Levy-Lahad, E.3    Hammerman, C.4    Lahad, A.5    Beutler, E.6
  • 20
    • 0035117057 scopus 로고    scopus 로고
    • Perinatal human hypoxia-ischemia vulnerability correlates with brain calcification
    • Rodríguez M.J., Ursu G., Bernal F., Cusí V., and Mahy N. Perinatal human hypoxia-ischemia vulnerability correlates with brain calcification. Neurobiol Dis 8 (2001) 59-68
    • (2001) Neurobiol Dis , vol.8 , pp. 59-68
    • Rodríguez, M.J.1    Ursu, G.2    Bernal, F.3    Cusí, V.4    Mahy, N.5
  • 21
    • 0014674354 scopus 로고
    • The identification of metabolic errors associated with hemolytic anemia
    • Fairbanks V.F., and Fernandez M.N. The identification of metabolic errors associated with hemolytic anemia. JAMA 208 (1969) 316-320
    • (1969) JAMA , vol.208 , pp. 316-320
    • Fairbanks, V.F.1    Fernandez, M.N.2
  • 22
    • 0032493441 scopus 로고    scopus 로고
    • Racial variability in the UDP-glucuronosyltransferase 1 (UGT1A1) promoter: a balanced polymorphism for regulation of bilirubin metabolism?
    • Beutler E., Gelbart T., and Demina A. Racial variability in the UDP-glucuronosyltransferase 1 (UGT1A1) promoter: a balanced polymorphism for regulation of bilirubin metabolism?. Proc Natl Acad Sci USA 95 (1998) 8170-8174
    • (1998) Proc Natl Acad Sci USA , vol.95 , pp. 8170-8174
    • Beutler, E.1    Gelbart, T.2    Demina, A.3
  • 23
    • 0033841077 scopus 로고    scopus 로고
    • Association of human liver bilirubin UDP-glucuronyltransferase activity with a polymorphism in the promoter region of the UGT1A1 gene
    • Raijmakers M.T., Jansen P.L., Steegers E.A., and Peters W.H. Association of human liver bilirubin UDP-glucuronyltransferase activity with a polymorphism in the promoter region of the UGT1A1 gene. J Hepatol 33 (2000) 348-351
    • (2000) J Hepatol , vol.33 , pp. 348-351
    • Raijmakers, M.T.1    Jansen, P.L.2    Steegers, E.A.3    Peters, W.H.4
  • 24
    • 0036204931 scopus 로고    scopus 로고
    • Hemolysis and bilirubin conjugation in association with UDP-glucuronosyltransferase 1A1 promoter polymorphism
    • Kaplan M., Hammerman C., Rubaltelli F.F., Vilei M.T., Levy-Lahad E., Renbaum P., et al. Hemolysis and bilirubin conjugation in association with UDP-glucuronosyltransferase 1A1 promoter polymorphism. Hepatology 35 (2002) 905-911
    • (2002) Hepatology , vol.35 , pp. 905-911
    • Kaplan, M.1    Hammerman, C.2    Rubaltelli, F.F.3    Vilei, M.T.4    Levy-Lahad, E.5    Renbaum, P.6
  • 25
    • 0014208048 scopus 로고
    • Value of genetic variants of glucose-6-phosphate dehydrogenase in tracing the origin of malignant tumors
    • Beutler E., Collins Z., and Irwin L.E. Value of genetic variants of glucose-6-phosphate dehydrogenase in tracing the origin of malignant tumors. N Engl J Med 276 (1967) 389-391
    • (1967) N Engl J Med , vol.276 , pp. 389-391
    • Beutler, E.1    Collins, Z.2    Irwin, L.E.3
  • 26
    • 0033803952 scopus 로고    scopus 로고
    • Synergistic heterozygosity: disease resulting from multiple partial defects in one or more metabolic pathways
    • Vockley J., Rinaldo P., Bennett M.J., Matern D., and Vladutiu G.D. Synergistic heterozygosity: disease resulting from multiple partial defects in one or more metabolic pathways. Mol Genet Metab 71 (2000) 10-18
    • (2000) Mol Genet Metab , vol.71 , pp. 10-18
    • Vockley, J.1    Rinaldo, P.2    Bennett, M.J.3    Matern, D.4    Vladutiu, G.D.5
  • 27
    • 0034788581 scopus 로고    scopus 로고
    • Heterozygosity: an expanding role in proteomics
    • Vladutiu G.D. Heterozygosity: an expanding role in proteomics. Mol Genet Metab 74 (2001) 51-63
    • (2001) Mol Genet Metab , vol.74 , pp. 51-63
    • Vladutiu, G.D.1
  • 28
    • 0033799997 scopus 로고    scopus 로고
    • Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype
    • Kadakol A., Ghosh S.S., Sappal B.S., Sharma G., Chowdhury J.R., and Chowdhury N.R. Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype. Hum Mutat 16 (2000) 297-306
    • (2000) Hum Mutat , vol.16 , pp. 297-306
    • Kadakol, A.1    Ghosh, S.S.2    Sappal, B.S.3    Sharma, G.4    Chowdhury, J.R.5    Chowdhury, N.R.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.