-
1
-
-
0027940492
-
G6PD deficiency
-
Beutler E. G6PD deficiency. Blood 84 (1994) 3613-3636
-
(1994)
Blood
, vol.84
, pp. 3613-3636
-
-
Beutler, E.1
-
2
-
-
10344221577
-
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
-
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
-
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
-
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
-
-
-
7
-
-
0018332310
-
Favism in Gd Mediterranean heterozygous females
-
Sanna G., De Virgiliis S., Palmas C., Argliolu F., Frau F., and Cao A. Favism in Gd Mediterranean heterozygous females. Pediatr Res 13 (1979) 812-816
-
(1979)
Pediatr Res
, vol.13
, pp. 812-816
-
-
Sanna, G.1
De Virgiliis, S.2
Palmas, C.3
Argliolu, F.4
Frau, F.5
Cao, A.6
-
8
-
-
0015356042
-
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
-
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
-
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
-
11
-
-
0033016312
-
Neonatal hyperbilirubinemia in glucose-6-phosphate dehydrogenase-deficient heterozygotes
-
Kaplan M., Beutler E., Vreman H.J., Hammerman C., Levy-Lahad E., Renbaum P., and Stevenson D.K. Neonatal hyperbilirubinemia in glucose-6-phosphate dehydrogenase-deficient heterozygotes. Pediatrics 104 (1999) 68-74
-
(1999)
Pediatrics
, vol.104
, pp. 68-74
-
-
Kaplan, M.1
Beutler, E.2
Vreman, H.J.3
Hammerman, C.4
Levy-Lahad, E.5
Renbaum, P.6
Stevenson, D.K.7
-
12
-
-
15044357752
-
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
-
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
-
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
-
15
-
-
1942426424
-
Kernicterus: epidemiological strategies for its prevention through systems-based approaches
-
Bhutani V.K., Johnson L.H., Jeffrey Maisels M., Newman T.B., Phibbs C., Stark A.R., et al. Kernicterus: epidemiological strategies for its prevention through systems-based approaches. J Perinatol 24 (2004) 650-662
-
(2004)
J Perinatol
, vol.24
, pp. 650-662
-
-
Bhutani, V.K.1
Johnson, L.H.2
Jeffrey Maisels, M.3
Newman, T.B.4
Phibbs, C.5
Stark, A.R.6
-
16
-
-
33748964785
-
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
-
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
-
18
-
-
14744282314
-
Neonatal bilirubin production-conjugation imbalance: effect of glucose-6-phosphate dehydrogenase deficiency and borderline prematurity
-
Kaplan M., Muraca M., Vreman H.J., Hammerman C., Vilei M.T., Rubaltelli F.F., and Stevenson D.K. Neonatal bilirubin production-conjugation imbalance: effect of glucose-6-phosphate dehydrogenase deficiency and borderline prematurity. Arch Dis Child Fetal Neonatal Ed 90 (2005) F123-F127
-
(2005)
Arch Dis Child Fetal Neonatal Ed
, vol.90
-
-
Kaplan, M.1
Muraca, M.2
Vreman, H.J.3
Hammerman, C.4
Vilei, M.T.5
Rubaltelli, F.F.6
Stevenson, D.K.7
-
19
-
-
0030691028
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
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