메뉴 건너뛰기




Volumn 51, Issue 1, 1996, Pages 19-25

Neonatal jaundice and molecular mutations in glucose-6-phosphate dehydrogenase deficient newborn infants

Author keywords

G6PD deficiency; Molecular mutants; Neonatal jaundice

Indexed keywords

GLUCOSE 6 PHOSPHATE DEHYDROGENASE;

EID: 0030031242     PISSN: 03618609     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8652(199601)51:1<19::AID-AJH4>3.0.CO;2-A     Document Type: Article
Times cited : (77)

References (31)
  • 1
    • 0025366174 scopus 로고
    • The genetics of glucose-6-phosphate dehydrogenase deficiency
    • Beutler E: The genetics of glucose-6-phosphate dehydrogenase deficiency. Semin Hematol 27:137-164, 1990.
    • (1990) Semin Hematol , vol.27 , pp. 137-164
    • Beutler, E.1
  • 2
    • 0027940492 scopus 로고
    • G6PD deficiency
    • Beutler E: G6PD deficiency. Blood 84:3613-3636, 1994.
    • (1994) Blood , vol.84 , pp. 3613-3636
    • Beutler, E.1
  • 3
    • 0027259193 scopus 로고
    • Variants of glucose-6-phosphate dehydrogenase are due to missense mutations spread throughout the coding region of the gene
    • Vulliamy T, Beutler E, Luzzatto L: Variants of glucose-6-phosphate dehydrogenase are due to missense mutations spread throughout the coding region of the gene. Hum Mutat 2:159-167, 1993.
    • (1993) Hum Mutat , vol.2 , pp. 159-167
    • Vulliamy, T.1    Beutler, E.2    Luzzatto, L.3
  • 4
    • 0028852395 scopus 로고
    • G6PD mutations and haplotypes in various ethnic groups
    • Xu W, Westwood B, Bartsocas CS, et al: G6PD mutations and haplotypes in various ethnic groups Blood 85:257-263, 1995.
    • (1995) Blood , vol.85 , pp. 257-263
    • Xu, W.1    Westwood, B.2    Bartsocas, C.S.3
  • 5
    • 0028959103 scopus 로고
    • Identification of two novel deletion mutations in glucose-6-phosphate dehydrogenase gene causing hemolytic anemia
    • Hirono A, Fujii H, Miwa S: Identification of two novel deletion mutations in glucose-6-phosphate dehydrogenase gene causing hemolytic anemia. Blood 85:1118-1121, 1995.
    • (1995) Blood , vol.85 , pp. 1118-1121
    • Hirono, A.1    Fujii, H.2    Miwa, S.3
  • 6
    • 0028919034 scopus 로고
    • New glucose-6-phosphate dehydrogenase mutations associated with chronic anemia
    • Mason PJ, Sonati MF, MacDonald D, et al: New glucose-6-phosphate dehydrogenase mutations associated with chronic anemia. Blood 85: 1377-1380, 1995.
    • (1995) Blood , vol.85 , pp. 1377-1380
    • Mason, P.J.1    Sonati, M.F.2    MacDonald, D.3
  • 7
    • 0026655456 scopus 로고
    • Molecular abnormalities of a human glucose-6-phosphate dehydrogenase variant associated with undetectabae enzyme activity and immunologically cross-reacting material
    • Maeda M, Constantoulakis P, Chen C-S, Stamatoyannopoulos G, Yoshida A: Molecular abnormalities of a human glucose-6-phosphate dehydrogenase variant associated with undetectabae enzyme activity and immunologically cross-reacting material Am J Hum Genet 51:386-395, 1992.
    • (1992) Am J Hum Genet , vol.51 , pp. 386-395
    • Maeda, M.1    Constantoulakis, P.2    Chen, C.-S.3    Stamatoyannopoulos, G.4    Yoshida, A.5
  • 9
    • 0027331492 scopus 로고
    • G6PD Nara: A new class I glucose-6-phosphate dehydrogenase variant with an eight amino acid deletion
    • Hirono A, Fujii H, Shima M, Miwa S: G6PD Nara: a new class I glucose-6-phosphate dehydrogenase variant with an eight amino acid deletion. Blood 82:3250-3252, 1993.
    • (1993) Blood , vol.82 , pp. 3250-3252
    • Hirono, A.1    Fujii, H.2    Shima, M.3    Miwa, S.4
  • 10
    • 0026643947 scopus 로고
    • Diverse point mutations result in glucose-6-phosphate dehydrogenase (G6PD) polymorphism in Taiwan
    • Tang TK, Huang CS, Huang MJ, Yeh CH, Tang C-JC: Diverse point mutations result in glucose-6-phosphate dehydrogenase (G6PD) polymorphism in Taiwan, Blood 79:2135-2140, 1992.
    • (1992) Blood , vol.79 , pp. 2135-2140
    • Tang, T.K.1    Huang, C.S.2    Huang, M.J.3    Yeh, C.H.4    Tang, C.-J.C.5
  • 11
    • 0026629648 scopus 로고
    • Molecular characterization of G6PD deficiency by natural and amplification created restriction sites: Five mutations account for most G6PD deficiency cases in Taiwan
    • Chang JG, Chiou SS, Perng LI, Chen TC, Liu TC, Lee LS, Chen PH, Tang TK: Molecular characterization of G6PD deficiency by natural and amplification created restriction sites: five mutations account for most G6PD deficiency cases in Taiwan. Blood 80:1079-1082, 1992
    • (1992) Blood , vol.80 , pp. 1079-1082
    • Chang, J.G.1    Chiou, S.S.2    Perng, L.I.3    Chen, T.C.4    Liu, T.C.5    Lee, L.S.6    Chen, P.H.7    Tang, T.K.8
  • 12
    • 0027468461 scopus 로고
    • Molecular characterization of glucose-6-phosphate dehydrogenase (G6PD) deficiency in patients of Chinese descent and identification of new base substitutions in the human G6PD gene
    • Chiu DTY, Zuo L, Chao L. et al: Molecular characterization of glucose-6-phosphate dehydrogenase (G6PD) deficiency in patients of Chinese descent and identification of new base substitutions in the human G6PD gene. Blood 81:2150-2154, 1993.
    • (1993) Blood , vol.81 , pp. 2150-2154
    • Chiu, D.T.Y.1    Zuo, L.2    Chao, L.3
  • 13
    • 0028337574 scopus 로고
    • Molecular characterization of glucose-6-phosphate dehydrogenase deficiency in Chinese infants with or without severe neonatal hyperbilirubinemia
    • Lo YS, Lu CC, Chiou SS, Chen BH, Chang TT, Chang JG: Molecular characterization of glucose-6-phosphate dehydrogenase deficiency in Chinese infants with or without severe neonatal hyperbilirubinemia. Br J Haematol 86:858-862, 1993.
    • (1993) Br J Haematol , vol.86 , pp. 858-862
    • Lo, Y.S.1    Lu, C.C.2    Chiou, S.S.3    Chen, B.H.4    Chang, T.T.5    Chang, J.G.6
  • 14
    • 0028057464 scopus 로고
    • Expression and biochemical characterization of human glucose-6-phosphate dehydrogenase in Eschenchia coli: A system to analyze normal and mutant enzymes
    • Tang TK, Yeh CH, Huang CS, Huang MJ: Expression and biochemical characterization of human glucose-6-phosphate dehydrogenase in Eschenchia coli: a system to analyze normal and mutant enzymes. Blood 83:1436-1441, 1994.
    • (1994) Blood , vol.83 , pp. 1436-1441
    • Tang, T.K.1    Yeh, C.H.2    Huang, C.S.3    Huang, M.J.4
  • 15
    • 0020159386 scopus 로고
    • The clinical application of glucose-6-phosphate dehydrogenase quantitative test
    • Huang CS, Chen TH, Wei C, Chein TY, Jang JF: The clinical application of glucose-6-phosphate dehydrogenase quantitative test. J Formosan Med Assoc 81:938-944, 1982.
    • (1982) J Formosan Med Assoc , vol.81 , pp. 938-944
    • Huang, C.S.1    Chen, T.H.2    Wei, C.3    Chein, T.Y.4    Jang, J.F.5
  • 17
    • 0025268929 scopus 로고
    • Heterogeneity of mRNA and protein products arising from the protein 4.1 gene in erythroid and nonerythroid tissues
    • Tang TK, Qin Z, Leto T, Marchesi VT, Benz EJ Jr: Heterogeneity of mRNA and protein products arising from the protein 4.1 gene in erythroid and nonerythroid tissues. J Cell Biol 110:617-624, 1990.
    • (1990) J Cell Biol , vol.110 , pp. 617-624
    • Tang, T.K.1    Qin, Z.2    Leto, T.3    Marchesi, V.T.4    Benz Jr., E.J.5
  • 19
    • 0028339178 scopus 로고
    • Molecular study of eight Japanese cases of glucose-6-phosphate dehydrogenase deficiency by nonradioisotopic single-strand conformation polymorphism analysis
    • Hirono A, Miwa S, Fujii H, Ishida F, Yamada K, Kubota K: Molecular study of eight Japanese cases of glucose-6-phosphate dehydrogenase deficiency by nonradioisotopic single-strand conformation polymorphism analysis. Blood 83:3363-3368, 1994.
    • (1994) Blood , vol.83 , pp. 3363-3368
    • Hirono, A.1    Miwa, S.2    Fujii, H.3    Ishida, F.4    Yamada, K.5    Kubota, K.6
  • 22
    • 0043275536 scopus 로고
    • Disorders of bilirubin metabolism
    • Nathan DG (ed): Philadelphia: WB Saunders
    • Gartner CM, Whitington PF: Disorders of bilirubin metabolism. In Nathan DG (ed): Hematology of infancy and childhood. Philadelphia: WB Saunders, 1987, pp 74-103.
    • (1987) Hematology of Infancy and Childhood , pp. 74-103
    • Gartner, C.M.1    Whitington, P.F.2
  • 23
    • 0026451162 scopus 로고
    • Association between glucose-6-phosphate dehydrogenase deficiency and neonatal jaundice
    • Yu MW, Hsiao KJ, Wuu KD, Chen CJ: Association between glucose-6-phosphate dehydrogenase deficiency and neonatal jaundice Int J Epidem 21:947-952, 1992.
    • (1992) Int J Epidem , vol.21 , pp. 947-952
    • Yu, M.W.1    Hsiao, K.J.2    Wuu, K.D.3    Chen, C.J.4
  • 24
    • 0026357097 scopus 로고
    • Definition of the mutations of G6PD Wayne, G6PD Viangchan, G6PD Jammu and G6PD "Le Jeune."
    • Basel
    • Beutler E, Westwood B, Kuhl W: Definition of the mutations of G6PD Wayne, G6PD Viangchan, G6PD Jammu and G6PD "Le Jeune." Acta Haematol (Basel) 86:179-182, 1991.
    • (1991) Acta Haematol , vol.86 , pp. 179-182
    • Beutler, E.1    Westwood, B.2    Kuhl, W.3
  • 25
    • 0026591865 scopus 로고
    • Glucose-6-phosphate dehydrogenase variants in Hawaii
    • Beutler E, Westwood B, Kuhl W, Hsia YE: Glucose-6-phosphate dehydrogenase variants in Hawaii. Hum Hered 42:327-329, 1992.
    • (1992) Hum Hered , vol.42 , pp. 327-329
    • Beutler, E.1    Westwood, B.2    Kuhl, W.3    Hsia, Y.E.4
  • 26
    • 0027440263 scopus 로고
    • Frequency of glucose-6-phosphate dehydrogenase (G6PD) mutations in Chinese, Filipinos, and Laotians from Hawaii
    • Hsia YE, Miyakawa F, Baltazar J, Ching NSP, Yuen J, Westwood B, Beutler E: Frequency of glucose-6-phosphate dehydrogenase (G6PD) mutations in Chinese, Filipinos, and Laotians from Hawaii. Hum Genet 92:470-476, 1993.
    • (1993) Hum Genet , vol.92 , pp. 470-476
    • Hsia, Y.E.1    Miyakawa, F.2    Baltazar, J.3    Ching, N.S.P.4    Yuen, J.5    Westwood, B.6    Beutler, E.7
  • 27
    • 1242333554 scopus 로고
    • G6PD-related neonatal jaundice
    • Yoshida A, Beutler E (eds): Orlando, FL: Academic Press
    • Piomelli S: G6PD-related neonatal jaundice. In Yoshida A, Beutler E (eds): Glucose-6-phosphate dehydrogenase. Orlando, FL: Academic Press, 1986, pp 95-108.
    • (1986) Glucose-6-phosphate Dehydrogenase , pp. 95-108
    • Piomelli, S.1
  • 28
    • 0019791605 scopus 로고
    • Glucose-6-phosphate dehydrogenase red blood cell phenotype in Gd Mediterranean heterozygous females and hemizygous males at birth
    • Sanna G, Frau F, De Virigiliis S, et al: Glucose-6-phosphate dehydrogenase red blood cell phenotype in Gd Mediterranean heterozygous females and hemizygous males at birth. Pediatr Res 15:1443-1446, 1981.
    • (1981) Pediatr Res , vol.15 , pp. 1443-1446
    • Sanna, G.1    Frau, F.2    De Virigiliis, S.3
  • 29
    • 0020678164 scopus 로고
    • Neonatal hyperbilirubinemia in heterozygous glucose-6-phosphate dehydrogenase deficient females
    • Meloni T, Forteleoni G, Dore A, et al: Neonatal hyperbilirubinemia in heterozygous glucose-6-phosphate dehydrogenase deficient females. Br J Haematol 53:241-246, 1983
    • (1983) Br J Haematol , vol.53 , pp. 241-246
    • Meloni, T.1    Forteleoni, G.2    Dore, A.3
  • 30
    • 0022580626 scopus 로고
    • Glucose-6-phosphate dehydrogenase deficiency: A preventable cause of mental retardation
    • Singh H: Glucose-6-phosphate dehydrogenase deficiency: a preventable cause of mental retardation. Br Med J 292:397, 1986.
    • (1986) Br Med J , vol.292 , pp. 397
    • Singh, H.1
  • 31
    • 0026568987 scopus 로고
    • Marked decline of favism after neonatal glucose-6-phosphate dehydrogenase screening and health education: The Northern Sardinian experience
    • Basel
    • Meloni T, Forteleoni G, Meloni GF: Marked decline of favism after neonatal glucose-6-phosphate dehydrogenase screening and health education: the Northern Sardinian experience. Acta Haematol (Basel) 87:29-31, 1992.
    • (1992) Acta Haematol , vol.87 , pp. 29-31
    • Meloni, T.1    Forteleoni, G.2    Meloni, G.F.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.