메뉴 건너뛰기




Volumn 37, Issue 5, 2008, Pages 303-310

Red blood cell enzyme disorders: An overview

Author keywords

[No Author keywords available]

Indexed keywords

ERYTHROCYTE ENZYME; GLUCOSE 6 PHOSPHATE DEHYDROGENASE; IRON CHELATING AGENT; PYRUVATE KINASE;

EID: 45349098379     PISSN: 00904481     EISSN: None     Source Type: Journal    
DOI: 10.3928/00904481-20080501-08     Document Type: Review
Times cited : (8)

References (40)
  • 1
    • 0021853793 scopus 로고
    • Hemolytic anemias and erythrocyte enzymopathies
    • Valentine WN, Tanaka KR, Paglia DE. Hemolytic anemias and erythrocyte enzymopathies. Ann Intern Med. 1985;103(2):245-57.
    • (1985) Ann Intern Med , vol.103 , Issue.2 , pp. 245-257
    • Valentine, W.N.1    Tanaka, K.R.2    Paglia, D.E.3
  • 2
    • 0034429955 scopus 로고    scopus 로고
    • Biochemical and genetic basis of red cell enzyme deficiencies
    • Jacobasch G.Biochemical and genetic basis of red cell enzyme deficiencies. Baillieres Best Pract Res Clin Haematol. 2000;13(1):1-20.
    • (2000) Baillieres Best Pract Res Clin Haematol , vol.13 , Issue.1 , pp. 1-20
    • Jacobasch, G.1
  • 3
    • 37549026846 scopus 로고    scopus 로고
    • Glucose-6-phosphate dehydrogenase deficiency
    • Cappellini MD, Fiorelli G. Glucose-6-phosphate dehydrogenase deficiency. Lancet. 2008;371(9606):64-74.
    • (2008) Lancet , vol.371 , Issue.9606 , pp. 64-74
    • Cappellini, M.D.1    Fiorelli, G.2
  • 4
    • 0001939584 scopus 로고
    • Pyruvate kinase and other enzymopathies of the erythrocyte
    • Scriver CR, BeaudetAL, Sly WS, Valle D, eds, New York: McGraw-Hill;
    • Tanaka KR, Paglia DE. Pyruvate kinase and other enzymopathies of the erythrocyte. In: Scriver CR, BeaudetAL, Sly WS, Valle D, eds. The Metabolic and Molecular Basis of Inherited Disease. New York: McGraw-Hill; 1990:3485-3511.
    • (1990) The Metabolic and Molecular Basis of Inherited Disease , pp. 3485-3511
    • Tanaka, K.R.1    Paglia, D.E.2
  • 5
    • 0001126254 scopus 로고
    • Pyruvate-kinase deficiency
    • Dacie J, ed, 3rd ed. New York: Churchill Livingstone;
    • Dacie J. Pyruvate-kinase deficiency. In: Dacie J, ed. The Hemolytic Anemias. 3rd ed. New York: Churchill Livingstone; 1985:284-320.
    • (1985) The Hemolytic Anemias , pp. 284-320
    • Dacie, J.1
  • 6
    • 0025007473 scopus 로고
    • A logical approach to the investigation of red cell enzymopathies
    • Lestas AN, Bellingham AJ.A logical approach to the investigation of red cell enzymopathies. Blood Rev. 1990;4(3):148-57.
    • (1990) Blood Rev , vol.4 , Issue.3 , pp. 148-157
    • Lestas, A.N.1    Bellingham, A.J.2
  • 8
    • 0024951961 scopus 로고
    • Glucose-6-phosphate dehydrogenase deficiency
    • WHO Working Group
    • WHO Working Group. Glucose-6-phosphate dehydrogenase deficiency. Bull World Health Organ. 1989;67(6):601-611.
    • (1989) Bull World Health Organ , vol.67 , Issue.6 , pp. 601-611
  • 9
    • 0001585429 scopus 로고    scopus 로고
    • Glucose 6-phosphate dehydrogenase deficiency
    • Scriver CR, Beaudet AL, Sly WS, et al, eds, 8th ed. Columbus: McGraw-Hill;
    • Luzzatto L, Metha A, Vulliamy T. Glucose 6-phosphate dehydrogenase deficiency. In: Scriver CR, Beaudet AL, Sly WS, et al, eds. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. Columbus: McGraw-Hill; 2001:4517-4553.
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 4517-4553
    • Luzzatto, L.1    Metha, A.2    Vulliamy, T.3
  • 10
    • 0021957563 scopus 로고
    • Tissue-specific levels of human glucose-6-phosphate dehydrogenase correlate with methylation of specific sites at the 3′ end of the gene
    • Battistuzzi G, D'Urso M, Toniolo D, Persico GM, Luzzatto L. Tissue-specific levels of human glucose-6-phosphate dehydrogenase correlate with methylation of specific sites at the 3′ end of the gene. Prot Natl Acad Sci U S A. 1985;82(5):1465-1469.
    • (1985) Prot Natl Acad Sci U S A , vol.82 , Issue.5 , pp. 1465-1469
    • Battistuzzi, G.1    D'Urso, M.2    Toniolo, D.3    Persico, G.M.4    Luzzatto, L.5
  • 11
    • 0016303890 scopus 로고
    • Intracellular restraint: A new basis for the limitation in response to oxidative stress in human erythrocytes containing low-activity variants of glucose-6-phosphate dehydrogenase
    • Gaetani GD, Parker JC, Kirkman HN. Intracellular restraint: a new basis for the limitation in response to oxidative stress in human erythrocytes containing low-activity variants of glucose-6-phosphate dehydrogenase. Proc Natl Acad Sci U S A. 1974;71(9):3584-3587.
    • (1974) Proc Natl Acad Sci U S A , vol.71 , Issue.9 , pp. 3584-3587
    • Gaetani, G.D.1    Parker, J.C.2    Kirkman, H.N.3
  • 12
    • 0031213525 scopus 로고    scopus 로고
    • Hematologically important mutations: Glucose-6-phosphate dehydrogenase
    • Bulliamy T, Luzzatto L, Hirono A, Beutler E. Hematologically important mutations: glucose-6-phosphate dehydrogenase. Blood Cells Mol Dis. 1997;23(2):302-313.
    • (1997) Blood Cells Mol Dis , vol.23 , Issue.2 , pp. 302-313
    • Bulliamy, T.1    Luzzatto, L.2    Hirono, A.3    Beutler, E.4
  • 14
  • 15
    • 0026879729 scopus 로고
    • Both mutations in G6PD A- are necessary to produce the G6PD deficient phenotype
    • Town M, Bautista JM, Mason PJ, Luzzatto L.Both mutations in G6PD A- are necessary to produce the G6PD deficient phenotype. Hum Mol Genet. 1992;1(3):171-174.
    • (1992) Hum Mol Genet , vol.1 , Issue.3 , pp. 171-174
    • Town, M.1    Bautista, J.M.2    Mason, P.J.3    Luzzatto, L.4
  • 16
    • 85117739034 scopus 로고    scopus 로고
    • single mutation 202G>A in the human glucose-6-phosphate dehydrogenase gene (G6PD) can cause acute hemolysis by itself
    • A, 200215;
    • Hirono A, Kawate K, Honda A, Fujii H, Miwa S.A single mutation 202G>A in the human glucose-6-phosphate dehydrogenase gene (G6PD) can cause acute hemolysis by itself. Blood. 200215;99(4):1498.
    • Blood , vol.99 , Issue.4 , pp. 1498
    • Hirono, A.1    Kawate, K.2    Honda, A.3    Fujii, H.4    Miwa, S.5
  • 17
    • 0031875836 scopus 로고    scopus 로고
    • Glucose-6-phosphate dehydrogenase deficiency and malaria
    • Jul;
    • Ruwende C, Hill A. Glucose-6-phosphate dehydrogenase deficiency and malaria. J Mol Med. 1998 Jul;76(8):581-8.
    • (1998) J Mol Med , vol.76 , Issue.8 , pp. 581-588
    • Ruwende, C.1    Hill, A.2
  • 18
    • 0029933131 scopus 로고    scopus 로고
    • G6PD: Population genetics and clinical manifestations
    • Beutler E. G6PD: population genetics and clinical manifestations. Blood Rev. 1996;10(1):45-52.
    • (1996) Blood Rev , vol.10 , Issue.1 , pp. 45-52
    • Beutler, E.1
  • 19
    • 0015506716 scopus 로고
    • Glucose-6-phosphate dehydrogenase and malaria. Greater resistance of females heterozygous for enzyme deficiency and of males with non-deficient variant
    • Bienzle U, Ayeni O, Lucas AO, Luzzatto L. Glucose-6-phosphate dehydrogenase and malaria. Greater resistance of females heterozygous for enzyme deficiency and of males with non-deficient variant. Lancet. 1972;1(7742):107-110.
    • (1972) Lancet , vol.1 , Issue.7742 , pp. 107-110
    • Bienzle, U.1    Ayeni, O.2    Lucas, A.O.3    Luzzatto, L.4
  • 20
    • 0029757639 scopus 로고    scopus 로고
    • New insights into G6PD deficiency
    • Mason PJ. New insights into G6PD deficiency. Br J Haematol. 1996;94(4):585-591.
    • (1996) Br J Haematol , vol.94 , Issue.4 , pp. 585-591
    • Mason, P.J.1
  • 23
    • 0000274748 scopus 로고
    • The hemolytic effect of primaquine. II. The natural course of the hemolytic anemia and the mechanism of its self-limited character
    • Dern RJ, Beutler E, Alving AS. The hemolytic effect of primaquine. II. The natural course of the hemolytic anemia and the mechanism of its self-limited character. J Lab Clin Med. 1954;44(2):171-176.
    • (1954) J Lab Clin Med , vol.44 , Issue.2 , pp. 171-176
    • Dern, R.J.1    Beutler, E.2    Alving, A.S.3
  • 24
    • 0036867167 scopus 로고    scopus 로고
    • Anemia and the liver. Hepatobiliary manifestations of anemia
    • viii
    • Edwards CQ. Anemia and the liver. Hepatobiliary manifestations of anemia. Clin Liver Dis. 2002;6(4):891-907, viii.
    • (2002) Clin Liver Dis , vol.6 , Issue.4 , pp. 891-907
    • Edwards, C.Q.1
  • 26
    • 0026591477 scopus 로고
    • Evaluation and treatment of jaundice in the term newborn: A kinder, gentler approach
    • Newman TB, Maisels MJ. Evaluation and treatment of jaundice in the term newborn: a kinder, gentler approach. Pediatrics. 1992;89(5Pt 1):809-818.
    • (1992) Pediatrics , vol.89 , Issue.5 PART 1 , pp. 809-818
    • Newman, T.B.1    Maisels, M.J.2
  • 27
    • 0022620545 scopus 로고
    • Improved erythrocyte survival with combined vitamin E and selenium therapy in children with glucose-6-phosphate dehydrogenase deficiency and mild chronic hemolysis
    • Hafez M, Amar ES, Zedan M, et al. Improved erythrocyte survival with combined vitamin E and selenium therapy in children with glucose-6-phosphate dehydrogenase deficiency and mild chronic hemolysis. J Pediatr. 1986;108(4):558-561.
    • (1986) J Pediatr , vol.108 , Issue.4 , pp. 558-561
    • Hafez, M.1    Amar, E.S.2    Zedan, M.3
  • 28
    • 0026525187 scopus 로고
    • Prenatal diagnosis of glucose-6-phosphate-dehydrogenase deficiency
    • Beutler E, Kuhl W, Fox M, Tabsh K, Crandall BF. Prenatal diagnosis of glucose-6-phosphate-dehydrogenase deficiency. Acta Haematol. 1992;87(1-2):103-104.
    • (1992) Acta Haematol , vol.87 , Issue.1-2 , pp. 103-104
    • Beutler, E.1    Kuhl, W.2    Fox, M.3    Tabsh, K.4    Crandall, B.F.5
  • 29
    • 77956902867 scopus 로고
    • Pyruvate kinase
    • Boyer PD, ed, 3rd ed. New York: Academic Press;
    • Kayne FJ. Pyruvate kinase. In Boyer PD, ed. Enzymes. 3rd ed. New York: Academic Press; 1973:353-382.
    • (1973) Enzymes , pp. 353-382
    • Kayne, F.J.1
  • 30
    • 0002185739 scopus 로고
    • A specific erythrocyte glycolytic enzyme defect (pyruvate kinase) in three subjects with congenital non-spherocytic hemolytic anemia
    • Valentine WN, Tanaka KR, Miwa S. A specific erythrocyte glycolytic enzyme defect (pyruvate kinase) in three subjects with congenital non-spherocytic hemolytic anemia. Trans Assoc Am Physicians. 1961;74:100-110.
    • (1961) Trans Assoc Am Physicians , vol.74 , pp. 100-110
    • Valentine, W.N.1    Tanaka, K.R.2    Miwa, S.3
  • 31
    • 0026459263 scopus 로고
    • Structural analysis of human pyruvate kinase L-gene and identification of the promoter activity in erythroid cells
    • Kanno H, Fujii H, Miwa S.Structural analysis of human pyruvate kinase L-gene and identification of the promoter activity in erythroid cells. Biochem Biophys Res Commun. 1992;188(2):516-523.
    • (1992) Biochem Biophys Res Commun , vol.188 , Issue.2 , pp. 516-523
    • Kanno, H.1    Fujii, H.2    Miwa, S.3
  • 32
    • 0024121596 scopus 로고
    • Human liver type pyruvate kinase: Complete amino acid sequence and the expression in mammalian cells
    • Tani K, Fujii H, Nagata S, Miwa S. Human liver type pyruvate kinase: complete amino acid sequence and the expression in mammalian cells. Proc Natl Acad Sci U S A. 1988;85(6):1792-5.
    • (1988) Proc Natl Acad Sci U S A , vol.85 , Issue.6 , pp. 1792-1795
    • Tani, K.1    Fujii, H.2    Nagata, S.3    Miwa, S.4
  • 33
    • 0032170211 scopus 로고    scopus 로고
    • Hematologically important mutations: Red cell pyruvate kinase (2nd update)
    • Baronciani L, Bianchi P, Zanella A. Hematologically important mutations: red cell pyruvate kinase (2nd update). Blood Cells Mol Dis. 1998;24(3):273-279.
    • (1998) Blood Cells Mol Dis , vol.24 , Issue.3 , pp. 273-279
    • Baronciani, L.1    Bianchi, P.2    Zanella, A.3
  • 34
    • 22144484881 scopus 로고    scopus 로고
    • Red cell pyruvate kinase deficiency: Molecular and clinical aspects
    • Zanella A, Fermo E, Bianchi P, Valentini G. Red cell pyruvate kinase deficiency: molecular and clinical aspects. Br J Haematol. 2005;130(1):11-25.
    • (2005) Br J Haematol , vol.130 , Issue.1 , pp. 11-25
    • Zanella, A.1    Fermo, E.2    Bianchi, P.3    Valentini, G.4
  • 35
    • 0003329149 scopus 로고
    • Disorders of erythrocyte metabolism
    • Mentzer WC, Wagner GM, eds, New York: Churchill Livingstone;
    • Mentzer WC, Glader BE. Disorders of erythrocyte metabolism. In: Mentzer WC, Wagner GM, eds. The Hereditary Hemolytic Anemias. New York: Churchill Livingstone; 1989:267-318.
    • (1989) The Hereditary Hemolytic Anemias , pp. 267-318
    • Mentzer, W.C.1    Glader, B.E.2
  • 36
    • 0017661211 scopus 로고
    • Characterization of pyruvate kinase from the liver of a patient with aberrant erythrocyte pyruvate kinase, PK Nagasaki
    • Nakashima K, Miwa S, Fujii H, et al. Characterization of pyruvate kinase from the liver of a patient with aberrant erythrocyte pyruvate kinase, PK Nagasaki. J Lab Clin Med. 1977;90(6):1012-1020.
    • (1977) J Lab Clin Med , vol.90 , Issue.6 , pp. 1012-1020
    • Nakashima, K.1    Miwa, S.2    Fujii, H.3
  • 37
    • 0027408744 scopus 로고
    • Iron status in red cell pyruvate kinase deficiency: Study of Italian cases
    • Zanella A, Berzuini A, Colombo MB, et al. Iron status in red cell pyruvate kinase deficiency: study of Italian cases. Br J Haematol. 1993;83(3):485-490.
    • (1993) Br J Haematol , vol.83 , Issue.3 , pp. 485-490
    • Zanella, A.1    Berzuini, A.2    Colombo, M.B.3
  • 38
    • 17944378860 scopus 로고    scopus 로고
    • Iron status and HFE genotype in erythrocyte pyruvate kinase deficiency: Study of Italian cases
    • Zanella A, Bianchi P, Iurlo A, et al. Iron status and HFE genotype in erythrocyte pyruvate kinase deficiency: study of Italian cases. Blood Cells Mol Dis. 2001;27(3):653-661.
    • (2001) Blood Cells Mol Dis , vol.27 , Issue.3 , pp. 653-661
    • Zanella, A.1    Bianchi, P.2    Iurlo, A.3
  • 39
    • 0033804518 scopus 로고    scopus 로고
    • Successful bone marrow transplantation in a child with red blood cell pyruvate kinase deficiency
    • Tanphaichitr VS, Suvatte V, Issaragrisil S, et al. Successful bone marrow transplantation in a child with red blood cell pyruvate kinase deficiency. Bone Marrow Transplant. 2000;26(6):689-690.
    • (2000) Bone Marrow Transplant , vol.26 , Issue.6 , pp. 689-690
    • Tanphaichitr, V.S.1    Suvatte, V.2    Issaragrisil, S.3
  • 40
    • 0028349214 scopus 로고
    • Retrovirus-mediated gene transfer of human pyruvate kinase (PK) cDNA into murine hematopoietic cells: Implications for gene therapy of human PK deficiency
    • Tani K, Yoshikubo T, Ikebuchi K, et al.Retrovirus-mediated gene transfer of human pyruvate kinase (PK) cDNA into murine hematopoietic cells: implications for gene therapy of human PK deficiency. Blood. 1994;83(8):2305-2310.
    • (1994) Blood , vol.83 , Issue.8 , pp. 2305-2310
    • Tani, K.1    Yoshikubo, T.2    Ikebuchi, K.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.