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Volumn 130, Issue 1, 2005, Pages 11-25

Red cell pyruvate kinase deficiency: Molecular and clinical aspects

Author keywords

Chronic haemolytic anaemia; Mutagenesis; Mutations; PK LR gene; Pyruvate kinase deficiency

Indexed keywords

DEFERIPRONE; DEFEROXAMINE; IRON CHELATE; PYRUVATE KINASE;

EID: 22144484881     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2141.2005.05527.x     Document Type: Review
Times cited : (185)

References (109)
  • 3
    • 0018905007 scopus 로고
    • Hemolytic anemia and pyruvate kinase deficiency in pregnancy
    • Amankwah, K.S., Dick, B.W. & Dodge, S. (1980) Hemolytic anemia and pyruvate kinase deficiency in pregnancy. Obstetrics and Gynecology, 55, 42S-44S.
    • (1980) Obstetrics and Gynecology , vol.55
    • Amankwah, K.S.1    Dick, B.W.2    Dodge, S.3
  • 4
    • 0025884038 scopus 로고
    • An in vitro novel mechanism of regulating the activity of pyruvate kinase M2 by thyroid hormone and fructose 1,6-bisphosphate
    • Ashizawa, K., McPhie, P., Lin, K.H. & Cheng, S.Y. (1991) An in vitro novel mechanism of regulating the activity of pyruvate kinase M2 by thyroid hormone and fructose 1,6-bisphosphate. Biochemistry, 30, 7105-7111.
    • (1991) Biochemistry , vol.30 , pp. 7105-7111
    • Ashizawa, K.1    McPhie, P.2    Lin, K.H.3    Cheng, S.Y.4
  • 6
    • 0027935321 scopus 로고
    • Prenatal diagnosis of pyruvate kinase deficiency
    • Baronciani, L. & Beutler, E. (1994) Prenatal diagnosis of pyruvate kinase deficiency. Blood, 84, 2354-2356.
    • (1994) Blood , vol.84 , pp. 2354-2356
    • Baronciani, L.1    Beutler, E.2
  • 7
    • 0028902353 scopus 로고
    • Molecular study of pyruvate kinase deficient patients with hereditary nonspherocytic hemolytic anemia
    • Baronciani, L. & Beutler, E. (1995) Molecular study of pyruvate kinase deficient patients with hereditary nonspherocytic hemolytic anemia. Journal of Clinical Investigation, 95, 1702-1709.
    • (1995) Journal of Clinical Investigation , vol.95 , pp. 1702-1709
    • Baronciani, L.1    Beutler, E.2
  • 9
    • 0000129196 scopus 로고
    • Study of the molecular defects in pyruvate kinase (PK) deficient patients affected by hereditary nonspherocytic hemolytic anemia (HNHA)
    • abstract
    • Baronciani, L., Westwood, B. & Beutler E. (1995b) Study of the molecular defects in pyruvate kinase (PK) deficient patients affected by hereditary nonspherocytic hemolytic anemia (HNHA). The Journal of Medical Investigation, 43, 341 (abstract).
    • (1995) The Journal of Medical Investigation , vol.43 , pp. 341
    • Baronciani, L.1    Westwood, B.2    Beutler, E.3
  • 11
    • 0034210203 scopus 로고    scopus 로고
    • Estimating the prevalence of pyruvate kinase deficiency from the gene frequency in the general white population
    • Beutler, E. & Gelbart, T. (2000) Estimating the prevalence of pyruvate kinase deficiency from the gene frequency in the general white population. Blood, 95, 3585-3588.
    • (2000) Blood , vol.95 , pp. 3585-3588
    • Beutler, E.1    Gelbart, T.2
  • 12
    • 0030610946 scopus 로고    scopus 로고
    • G → T transition at cDNA nt 110 (K37Q) in the PKLR (pyruvate kinase) gene is the molecular basis of a case of hereditary increase of red blood cell ATP
    • Beutler, E., Westwood, B., van Zwieten, R. & Roos, D. (1997) G → T transition at cDNA nt 110 (K37Q) in the PKLR (pyruvate kinase) gene is the molecular basis of a case of hereditary increase of red blood cell ATP. Human Mutations, 9, 282-285.
    • (1997) Human Mutations , vol.9 , pp. 282-285
    • Beutler, E.1    Westwood, B.2    Van Zwieten, R.3    Roos, D.4
  • 13
    • 0020481524 scopus 로고
    • Anémie hémolytique héreditaire par déficit en pyruvate-kinase: Pronostic des formes neonatales
    • Boivin, P. & Ottenwaelter, T. (1982) Anémie hémolytique héreditaire par déficit en pyruvate-kinase: pronostic des formes neonatales. La Nouvelle Presse Medicale, 11, 917-919.
    • (1982) La Nouvelle Presse Medicale , vol.11 , pp. 917-919
    • Boivin, P.1    Ottenwaelter, T.2
  • 15
    • 13244291701 scopus 로고    scopus 로고
    • Severe hemolytic anemia in a Vietnamese family, associated with novel mutations in the gene encoding for pyruvate kinase
    • Costa, C., Albuisson, J., Le, T.H., Max-Audit, I., Dinh, K.T., Tosi, M., Goossens, M. & Pissard, S. (2005) Severe hemolytic anemia in a Vietnamese family, associated with novel mutations in the gene encoding for pyruvate kinase. Haematologica, 90, 25-30.
    • (2005) Haematologica , vol.90 , pp. 25-30
    • Costa, C.1    Albuisson, J.2    Le, T.H.3    Max-Audit, I.4    Dinh, K.T.5    Tosi, M.6    Goossens, M.7    Pissard, S.8
  • 17
    • 0001126254 scopus 로고
    • Pyruvate-kinase (PK) deficiency
    • (ed. by J. Dacie), 3rd edn. Churchill Livingstone, New York
    • Dacie, J. (1985) Pyruvate-kinase (PK) deficiency. In: The Hemolytic Anemias (ed. by J. Dacie), 3rd edn, Vol. 1, pp. 284-320. Churchill Livingstone, New York.
    • (1985) The Hemolytic Anemias , vol.1 , pp. 284-320
    • Dacie, J.1
  • 18
    • 0032528420 scopus 로고    scopus 로고
    • Six previously undescribed pyruvate kinase mutations causing enzyme deficiency
    • Demina, A., Varughese, K.I., Barbot, J., Forman, L. & Beutler, E. (1998) Six previously undescribed pyruvate kinase mutations causing enzyme deficiency. Blood, 92, 647-652.
    • (1998) Blood , vol.92 , pp. 647-652
    • Demina, A.1    Varughese, K.I.2    Barbot, J.3    Forman, L.4    Beutler, E.5
  • 20
    • 0031848864 scopus 로고    scopus 로고
    • Pyruvate kinase deficiency: An unusual cause of puerperal jaundice
    • Esen, U.I. & Olajide, F. (1998) Pyruvate kinase deficiency: an unusual cause of puerperal jaundice. International Journal of Clinical Practice, 52, 349-350.
    • (1998) International Journal of Clinical Practice , vol.52 , pp. 349-350
    • Esen, U.I.1    Olajide, F.2
  • 21
    • 0021968402 scopus 로고
    • Pyruvate kinase deficiency hemolytic anemia: Two successful pregnancy outcomes
    • Fanning, J. & Hinkle, R.S. (1985) Pyruvate kinase deficiency hemolytic anemia: two successful pregnancy outcomes. American Journal of Obstetrics and Gynecology, 153, 313-314.
    • (1985) American Journal of Obstetrics and Gynecology , vol.153 , pp. 313-314
    • Fanning, J.1    Hinkle, R.S.2
  • 26
    • 7244229272 scopus 로고    scopus 로고
    • Hereditary hemolytic anemias due to enzyme disorders
    • (ed. by W.C. Mentzer and G.H. Wagner), 11th edn. Lippincot Williams and Wilkins, Philadelphia
    • Glader, B. (2004) Hereditary hemolytic anemias due to enzyme disorders. In: Wintrobe's Clinical Hematology (ed. by W.C. Mentzer and G.H. Wagner), 11th edn, pp. 1115-1140. Lippincot Williams and Wilkins, Philadelphia.
    • (2004) Wintrobe's Clinical Hematology , pp. 1115-1140
    • Glader, B.1
  • 28
    • 0032520197 scopus 로고    scopus 로고
    • The allosteric regulation of pyruvate kinase by fructose-1,6-bisphosphate
    • Jurica, M.S., Mesecar, A., Heath, P.J., Shi, W., Nowak, T. & Stoddard, B.L. (1998) The allosteric regulation of pyruvate kinase by fructose-1,6-bisphosphate. Structure, 6, 195-210.
    • (1998) Structure , vol.6 , pp. 195-210
    • Jurica, M.S.1    Mesecar, A.2    Heath, P.J.3    Shi, W.4    Nowak, T.5    Stoddard, B.L.6
  • 29
    • 0020345764 scopus 로고
    • Pyruvate kinases from human erythrocytes and liver
    • Kahn, A. & Marie, J. (1982) Pyruvate kinases from human erythrocytes and liver. Methods in Enzymology, 90, 131-141.
    • (1982) Methods in Enzymology , vol.90 , pp. 131-141
    • Kahn, A.1    Marie, J.2
  • 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. (1992a) Structural analysis of human pyruvate kinase L-gene and identification of the promoter activity in erythroid cells. Biochemical and Biophysical Research Communications, 188, 516-523.
    • (1992) Biochemical and Biophysical Research Communications , vol.188 , pp. 516-523
    • Kanno, H.1    Fujii, H.2    Miwa, S.3
  • 32
    • 0026517708 scopus 로고
    • Identical point mutations of the R-type pyruvate kinase (PK) cDNA found in unrelated PK variants associated with hereditary hemolytic anemia
    • Kanno, H., Fujii, H., Hirono, A., Omine, M. & Miwa, S. (1992b) Identical point mutations of the R-type pyruvate kinase (PK) cDNA found in unrelated PK variants associated with hereditary hemolytic anemia. Blood, 79, 1347-1350.
    • (1992) Blood , vol.79 , pp. 1347-1350
    • Kanno, H.1    Fujii, H.2    Hirono, A.3    Omine, M.4    Miwa, S.5
  • 33
    • 0027209510 scopus 로고
    • Molecular basis of impaired pyruvate kinase isozyme conversion in erythroid cells: A single amino acid substitution near the active site and decreased mRNA content of the R-type PK
    • Kanno, H., Fujii, H., Tsujino, G. & Miwa, S. (1993a) Molecular basis of impaired pyruvate kinase isozyme conversion in erythroid cells: A single amino acid substitution near the active site and decreased mRNA content of the R-type PK. Biochemical and Biophysical Research Communications, 192, 46-52.
    • (1993) Biochemical and Biophysical Research Communications , vol.192 , pp. 46-52
    • Kanno, H.1    Fujii, H.2    Tsujino, G.3    Miwa, S.4
  • 34
    • 0027215046 scopus 로고
    • Low substrate affinity of pyruvate kinase variant (PK Sapporo) caused by a single amino acid substitution (426 Arg → Gln) associated with hereditary hemolytic anemia
    • Kanno, H., Fujii, H. & Miwa, S. (1993b) Low substrate affinity of pyruvate kinase variant (PK Sapporo) caused by a single amino acid substitution (426 Arg → Gln) associated with hereditary hemolytic anemia. Blood, 81, 2439-2441.
    • (1993) Blood , vol.81 , pp. 2439-2441
    • Kanno, H.1    Fujii, H.2    Miwa, S.3
  • 35
    • 0028089699 scopus 로고
    • Hereditary hemolytic anemia caused by diverse point mutations of pyruvate kinase gene found in Japan and Hong Kong
    • Kanno, H., Wei, D.C., Chan, L.C., Mizoguchi, H., Ando, M., Nakahata, T., Narisawa, K., Fujii, H. & Miwa, S. (1994a) Hereditary hemolytic anemia caused by diverse point mutations of pyruvate kinase gene found in Japan and Hong Kong. Blood, 84, 3505-3509.
    • (1994) Blood , vol.84 , pp. 3505-3509
    • Kanno, H.1    Wei, D.C.2    Chan, L.C.3    Mizoguchi, H.4    Ando, M.5    Nakahata, T.6    Narisawa, K.7    Fujii, H.8    Miwa, S.9
  • 36
    • 0028210009 scopus 로고
    • Molecular abnormality of erythrocyte pyruvate kinase deficiency in the Amish
    • Kanno, H., Ballas, S.K., Miwa, S., Fujii, H. & Bowman, H.S. (1994b) Molecular abnormality of erythrocyte pyruvate kinase deficiency in the Amish. Blood, 83, 2311-2316.
    • (1994) Blood , vol.83 , pp. 2311-2316
    • Kanno, H.1    Ballas, S.K.2    Miwa, S.3    Fujii, H.4    Bowman, H.S.5
  • 37
    • 0003207652 scopus 로고
    • Molecular heterogeneity of pyruvate kinase deficiency identified by single strand conformational polymorphism (SSCP) analysis
    • abstract
    • Kanno, H., Fujii, H. & Miwa, S. (1994c) Molecular heterogeneity of pyruvate kinase deficiency identified by single strand conformational polymorphism (SSCP) analysis. Blood, 84, 13a (abstract).
    • (1994) Blood , vol.84
    • Kanno, H.1    Fujii, H.2    Miwa, S.3
  • 38
    • 0030992689 scopus 로고    scopus 로고
    • Frame shift mutation, exon skipping, and a two-codon deletion caused by splice site mutations account for pyruvate kinase deficiency
    • Kanno, H., Fujii, H., Wei, D.C., Chan, L.C., Hirono, A., Tsukimoto, I. & Miwa, S. (1997) Frame shift mutation, exon skipping, and a two-codon deletion caused by splice site mutations account for pyruvate kinase deficiency. Blood, 89, 4213-4218.
    • (1997) Blood , vol.89 , pp. 4213-4218
    • Kanno, H.1    Fujii, H.2    Wei, D.C.3    Chan, L.C.4    Hirono, A.5    Tsukimoto, I.6    Miwa, S.7
  • 39
    • 0021740663 scopus 로고
    • A rapid purification method for human erythrocyte pyruvate kinase
    • Kilinc, K. & Ozer, N. (1984) A rapid purification method for human erythrocyte pyruvate kinase. Biochemical Medicine, 32, 296-302.
    • (1984) Biochemical Medicine , vol.32 , pp. 296-302
    • Kilinc, K.1    Ozer, N.2
  • 40
    • 0034008396 scopus 로고    scopus 로고
    • Eight novel mutations and consequences on mRNA and protein level in pyruvate kinase-deficient patients with nonspherocytic hemolytic anemia
    • Kugler, W., Willaschek, C., Holtz, C., Ohlenbusch, A., Laspe, P., Krugener, R., Muirhead, H., Schroter, W. & Lakomek, M. (2000) Eight novel mutations and consequences on mRNA and protein level in pyruvate kinase-deficient patients with nonspherocytic hemolytic anemia. Human Mutation, 15, 261-272.
    • (2000) Human Mutation , vol.15 , pp. 261-272
    • Kugler, W.1    Willaschek, C.2    Holtz, C.3    Ohlenbusch, A.4    Laspe, P.5    Krugener, R.6    Muirhead, H.7    Schroter, W.8    Lakomek, M.9
  • 41
    • 0027942939 scopus 로고
    • Mutations in the R-type pyruvate kinase gene and altered enzyme kinetic properties in patients with hemolytic anemia due to pyruvate kinase deficiency
    • Lakomek, M., Huppke, P., Neubauer, B., Pekrun, A., Winkler, H. & Schröter, W. (1994) Mutations in the R-type pyruvate kinase gene and altered enzyme kinetic properties in patients with hemolytic anemia due to pyruvate kinase deficiency. Annals of Hematology, 68, 253-260.
    • (1994) Annals of Hematology , vol.68 , pp. 253-260
    • Lakomek, M.1    Huppke, P.2    Neubauer, B.3    Pekrun, A.4    Winkler, H.5    Schröter, W.6
  • 42
    • 0028300519 scopus 로고
    • Structure of rabbit muscle pyruvate kinase complexed with Mn2+, K+, and pyruvate
    • Larsen, T.M., Laughlin, L.T., Holden, H.M., Rayment, I. & Reed, G.H. (1994) Structure of rabbit muscle pyruvate kinase complexed with Mn2+, K+, and pyruvate. Biochemistry, 33, 6301-6309.
    • (1994) Biochemistry , vol.33 , pp. 6301-6309
    • Larsen, T.M.1    Laughlin, L.T.2    Holden, H.M.3    Rayment, I.4    Reed, G.H.5
  • 44
    • 0017803414 scopus 로고
    • Erythrocyte populations in pyruvate kinase deficiency anemia following splenectomy. I. Cell morphology
    • Leblond, P.F., Lyonnais, J. & Delage, J.M. (1978) Erythrocyte populations in pyruvate kinase deficiency anemia following splenectomy. I. Cell morphology. British Journal of Haematology, 39, 55-61.
    • (1978) British Journal of Haematology , vol.39 , pp. 55-61
    • Leblond, P.F.1    Lyonnais, J.2    Delage, J.M.3
  • 45
    • 0028289419 scopus 로고
    • Mutations in the pyruvate kinase L gene in patients with hereditary hemolytic anemia
    • Lenzner, C., Nurnberg, P., Thiele, B.J., Reis, A., Brabec, V., Sakalova, A. & Jacobasch, G. (1994a) Mutations in the pyruvate kinase L gene in patients with hereditary hemolytic anemia. Blood, 83, 2817-2822.
    • (1994) Blood , vol.83 , pp. 2817-2822
    • Lenzner, C.1    Nurnberg, P.2    Thiele, B.J.3    Reis, A.4    Brabec, V.5    Sakalova, A.6    Jacobasch, G.7
  • 47
    • 1842376276 scopus 로고    scopus 로고
    • Molecular analysis of 29 pyruvate kinase-deficient patients from central Europe with hereditary hemolytic anemia
    • Lenzner, C., Nurnberg, P., Jacobasch, G., Gerth, C. & Thiele, B.J. (1997a) Molecular analysis of 29 pyruvate kinase-deficient patients from central Europe with hereditary hemolytic anemia. Blood, 89, 1793-1799.
    • (1997) Blood , vol.89 , pp. 1793-1799
    • Lenzner, C.1    Nurnberg, P.2    Jacobasch, G.3    Gerth, C.4    Thiele, B.J.5
  • 48
    • 0031432681 scopus 로고    scopus 로고
    • Complete genomic sequence of the human PK-L/R-gene includes four intragenic polymorphisms defining different haplotype backgrounds of normal and mutant PK-genes
    • Lenzner, C., Nurnberg, P., Jacobasch, G. & Thiele, B.J. (1997b) Complete genomic sequence of the human PK-L/R-gene includes four intragenic polymorphisms defining different haplotype backgrounds of normal and mutant PK-genes. DNA sequence: the Journal of DNA Sequencing and Mapping, 8, 45-53.
    • (1997) DNA Sequence: The Journal of DNA Sequencing and Mapping , vol.8 , pp. 45-53
    • Lenzner, C.1    Nurnberg, P.2    Jacobasch, G.3    Thiele, B.J.4
  • 53
    • 0029645125 scopus 로고
    • Crystal structure of Escherichia coli pyruvate kinase type I: Molecular basis of the allosteric transition
    • Mattevi, A., Valentini, G., Rizzi, M., Speranza, M.L., Bolognesi, M. & Coda, A. (1995) Crystal structure of Escherichia coli pyruvate kinase type I: molecular basis of the allosteric transition. Structure, 3, 729-741.
    • (1995) Structure , vol.3 , pp. 729-741
    • Mattevi, A.1    Valentini, G.2    Rizzi, M.3    Speranza, M.L.4    Bolognesi, M.5    Coda, A.6
  • 54
    • 0030600132 scopus 로고    scopus 로고
    • The allosteric regulation of pyruvate kinase
    • Mattevi, A., Bolognesi, M. & Valentini, G. (1996) The allosteric regulation of pyruvate kinase. FEBS letters, 389, 15-19.
    • (1996) FEBS Letters , vol.389 , pp. 15-19
    • Mattevi, A.1    Bolognesi, M.2    Valentini, G.3
  • 55
    • 0003329149 scopus 로고
    • Disorders of erythrocyte metabolism
    • (ed. by J.P. Greer, J. Foerster & J.N. Lukens). Churchill Livingstone, New York
    • Mentzer, W.C. & Glader, B.E. (1989) Disorders of erythrocyte metabolism. In: The Hereditary Hemolytic Anemias (ed. by J.P. Greer, J. Foerster & J.N. Lukens), pp. 267-318. Churchill Livingstone, New York.
    • (1989) The Hereditary Hemolytic Anemias , pp. 267-318
    • Mentzer, W.C.1    Glader, B.E.2
  • 58
    • 0027492512 scopus 로고
    • Pyruvate kinase deficiency: Historical perspective and recent progress of molecular genetics
    • Miwa, S., Kanno, H. & Fujii, H. (1993) Pyruvate kinase deficiency: historical perspective and recent progress of molecular genetics. American Journal of Hematology, 42, 31-35.
    • (1993) American Journal of Hematology , vol.42 , pp. 31-35
    • Miwa, S.1    Kanno, H.2    Fujii, H.3
  • 59
    • 78651189765 scopus 로고
    • On the nature of allosteric transitions: A plausible model
    • Monod, J., Wyman, J. & Changeux, J.P. (1965) On the nature of allosteric transitions: a plausible model. Journal of Molecular Biology, 12, 88-118.
    • (1965) Journal of Molecular Biology , vol.12 , pp. 88-118
    • Monod, J.1    Wyman, J.2    Changeux, J.P.3
  • 63
    • 0025893142 scopus 로고
    • Point mutations in the L-type pyruvate kinase gene of two children with hemolytic anemia caused by pyruvate kinase deficiency
    • Neubauer, B., Lakomek, M., Winkler, H., Parke, M., Hofferbert, S. & Schröter, W. (1991) Point mutations in the L-type pyruvate kinase gene of two children with hemolytic anemia caused by pyruvate kinase deficiency. Blood, 77, 1871-1875.
    • (1991) Blood , vol.77 , pp. 1871-1875
    • Neubauer, B.1    Lakomek, M.2    Winkler, H.3    Parke, M.4    Hofferbert, S.5    Schröter, W.6
  • 64
    • 0022930036 scopus 로고
    • The M1- and M2-type isozymes of rat pyruvate kinase are produced from the same gene by alternative RNA splicing
    • Noguchi, T., Inoue, H. & Tanaka, T. (1986) The M1- and M2-type isozymes of rat pyruvate kinase are produced from the same gene by alternative RNA splicing. Journal of Biological Chemistry, 261, 13807-13812.
    • (1986) Journal of Biological Chemistry , vol.261 , pp. 13807-13812
    • Noguchi, T.1    Inoue, H.2    Tanaka, T.3
  • 65
    • 0023656468 scopus 로고
    • The L- and R-type isozymes of rat pyruvate kinase are produced from a single gene by use of different promoters
    • Noguchi, T., Yamada, K., Inoue, H., Matsuda, T. & Tanaka, T. (1987) The L- and R-type isozymes of rat pyruvate kinase are produced from a single gene by use of different promoters. Journal of Biological Chemistry, 262, 14366-14371.
    • (1987) Journal of Biological Chemistry , vol.262 , pp. 14366-14371
    • Noguchi, T.1    Yamada, K.2    Inoue, H.3    Matsuda, T.4    Tanaka, T.5
  • 67
    • 18644376754 scopus 로고    scopus 로고
    • A novel homozygous mutation of PK-LR gene in pyruvate kinase deficient Korean family
    • Park-Hah, J.O., Kanno, H., Kim, W.D. & Fuji, H. (2005) A novel homozygous mutation of PK-LR gene in pyruvate kinase deficient Korean family. Acta Haematologica, 113, 208-211.
    • (2005) Acta Haematologica , vol.113 , pp. 208-211
    • Park-Hah, J.O.1    Kanno, H.2    Kim, W.D.3    Fuji, H.4
  • 69
    • 0142105997 scopus 로고    scopus 로고
    • Ischaemic stroke complicating pyruvate kinase deficiency
    • Pincus, M., Stark, R.A. & O'Neill, J.H. (2003) Ischaemic stroke complicating pyruvate kinase deficiency. Internal Medicine Journal, 33, 473-474.
    • (2003) Internal Medicine Journal , vol.33 , pp. 473-474
    • Pincus, M.1    Stark, R.A.2    O'Neill, J.H.3
  • 72
    • 0019814079 scopus 로고
    • Serum ferritin levels in thalassaemias and the effect of splenectomy
    • Pootrakul, P., Vongsmasa, V., La-ongpanich, P. & Wasi, P. (1981) Serum ferritin levels in thalassaemias and the effect of splenectomy. Acta Haematologica, 66, 244-250.
    • (1981) Acta Haematologica , vol.66 , pp. 244-250
    • Pootrakul, P.1    Vongsmasa, V.2    La-Ongpanich, P.3    Wasi, P.4
  • 73
    • 0035725868 scopus 로고    scopus 로고
    • Practical management of iron overload
    • Porter, J.B. (2001) Practical management of iron overload. British Journal of Haematology, 115, 239-252.
    • (2001) British Journal of Haematology , vol.115 , pp. 239-252
    • Porter, J.B.1
  • 74
    • 0033588341 scopus 로고    scopus 로고
    • The structure of pyruvate kinase from Leishmania mexicana reveals details of the allosteric transition and unusual effector specificity
    • Rigden, D.J., Phillips, S.E.V., Michels, P.A.M. & Fothergill-Gilmore, L.A. (1999) The structure of pyruvate kinase from Leishmania mexicana reveals details of the allosteric transition and unusual effector specificity. Journal of Molecular Biology, 291, 615-635.
    • (1999) Journal of Molecular Biology , vol.291 , pp. 615-635
    • Rigden, D.J.1    Phillips, S.E.V.2    Michels, P.A.M.3    Fothergill-Gilmore, L.A.4
  • 75
    • 0030032453 scopus 로고    scopus 로고
    • PK Mondor: Prenatal diagnosis of a frameshift mutation in the LR pyruvate kinase gene associated with severe hereditary non-spherocytic haemolytic anaemia
    • Rouger, H., Girodon, E., Goossens, M., Galacteros, F. & Cohen Solal, M. (1996a) PK Mondor: prenatal diagnosis of a frameshift mutation in the LR pyruvate kinase gene associated with severe hereditary non-spherocytic haemolytic anaemia. Prenatal Diagnosis, 16, 97-104.
    • (1996) Prenatal Diagnosis , vol.16 , pp. 97-104
    • Rouger, H.1    Girodon, E.2    Goossens, M.3    Galacteros, F.4    Cohen Solal, M.5
  • 76
    • 0029933298 scopus 로고    scopus 로고
    • Five unknown mutations in the LR pyruvate kinase gene associated with severe hereditary nonspherocytic haemolytic anaemia in France
    • Rouger, H., Valentin, C., Craescu, C.T., Galacteros, F. & Cohen Solal, M. (1996b) Five unknown mutations in the LR pyruvate kinase gene associated with severe hereditary nonspherocytic haemolytic anaemia in France. British Journal of Haematology, 92, 825-830.
    • (1996) British Journal of Haematology , vol.92 , pp. 825-830
    • Rouger, H.1    Valentin, C.2    Craescu, C.T.3    Galacteros, F.4    Cohen Solal, M.5
  • 77
    • 32744465237 scopus 로고    scopus 로고
    • Hyperbilirubinemia in pyruvate kinase deficiency: The role of Gilbert's syndrome
    • abstract
    • Sampietro, M., Tavazzi, D., Fermo, E., Bianchi, P. & Zanella, A. (2003) Hyperbilirubinemia in pyruvate kinase deficiency: the role of Gilbert's syndrome. Blood, 102, 258a (abstract).
    • (2003) Blood , vol.102
    • Sampietro, M.1    Tavazzi, D.2    Fermo, E.3    Bianchi, P.4    Zanella, A.5
  • 80
    • 0001254410 scopus 로고    scopus 로고
    • Identification of a novel mutation (PK-Dordrecht) and a novel polymorphism in the human red cell type pyruvate kinase gene
    • abstract
    • van Solinge, W.W., van Wijk, R., Kraaijenhagen, R.J., Rijksen, G. & Nielsen, F.C. (1996) Identification of a novel mutation (PK-Dordrecht) and a novel polymorphism in the human red cell type pyruvate kinase gene. British Journal of Haematology, 93, 733 (abstract).
    • (1996) British Journal of Haematology , vol.93 , pp. 733
    • Van Solinge, W.W.1    Van Wijk, R.2    Kraaijenhagen, R.J.3    Rijksen, G.4    Nielsen, F.C.5
  • 82
    • 0001672195 scopus 로고    scopus 로고
    • Novel mutations in the human red cell type pyruvate kinase gene: Two promoter mutations in cis, a splice site mutation, a nonsense- and three missense mutations
    • abstract
    • van Solinge, W.W., van Wijk, H.A., Kraaijenhagen, R.J., Rijksen, G. & Nielsen, F.C. (1997b) Novel mutations in the human red cell type pyruvate kinase gene: Two promoter mutations in cis, a splice site mutation, a nonsense- and three missense mutations. Blood, 90, 1197 (abstract).
    • (1997) Blood , vol.90 , pp. 1197
    • Van Solinge, W.W.1    Van Wijk, H.A.2    Kraaijenhagen, R.J.3    Rijksen, G.4    Nielsen, F.C.5
  • 83
    • 0020509946 scopus 로고
    • Change of pyruvate kinase isozymes from M2- to L-type during development of the red cell
    • Takegawa, S., Fujii, H. & Miwa, S. (1983) Change of pyruvate kinase isozymes from M2- to L-type during development of the red cell. British Journal of Haematology, 54, 467-474.
    • (1983) British Journal of Haematology , vol.54 , pp. 467-474
    • Takegawa, S.1    Fujii, H.2    Miwa, S.3
  • 85
    • 0025271684 scopus 로고
    • Red cell enzymopathies of the glycolytic pathway
    • Tanaka, K.R. & Zerez, C.R. (1990) Red cell enzymopathies of the glycolytic pathway. Seminars in Hematology, 27, 165-185.
    • (1990) Seminars in Hematology , vol.27 , pp. 165-185
    • Tanaka, K.R.1    Zerez, C.R.2
  • 86
    • 0024166362 scopus 로고
    • Human M2-type pyruvate kinase: CDNA cloning, chromosomal assignment and expression in hepatoma
    • Tani, K., Yoshida, M.C., Satoh, H., Mitamura, K., Noguchi, T., Tanaka, T., Fujii, H. & Miwa, S. (1988a) Human M2-type pyruvate kinase: cDNA cloning, chromosomal assignment and expression in hepatoma. Gene, 20, 509-516.
    • (1988) Gene , vol.20 , pp. 509-516
    • Tani, K.1    Yoshida, M.C.2    Satoh, H.3    Mitamura, K.4    Noguchi, T.5    Tanaka, T.6    Fujii, H.7    Miwa, S.8
  • 91
    • 0002185739 scopus 로고
    • A specific erythrocyte glycolytic enzyme defect (pyruvate kinase) in three subjects with congenital non-spherocytic hemolytic anemia
    • Valentine, W.N., Tanaka, K.R. & Miwa, S. (1961) A specific erythrocyte glycolytic enzyme defect (pyruvate kinase) in three subjects with congenital non-spherocytic hemolytic anemia. Transactions of the Association of American Physicians, 74, 100-110.
    • (1961) Transactions of the Association of American Physicians , vol.74 , pp. 100-110
    • Valentine, W.N.1    Tanaka, K.R.2    Miwa, S.3
  • 95
    • 0027960207 scopus 로고
    • Erythropoietin in the treatment of iron overload in a patient with hemolytic anemia and pyruvate kinase deficiency
    • Vukelja, S.J. (1994) Erythropoietin in the treatment of iron overload in a patient with hemolytic anemia and pyruvate kinase deficiency. Acta Haematologica, 91, 199-200.
    • (1994) Acta Haematologica , vol.91 , pp. 199-200
    • Vukelja, S.J.1
  • 96
    • 0035892103 scopus 로고    scopus 로고
    • Human erythrocyte pyruvate kinase: Characterization of the recombinant enzyme and a mutant form (R510Q) causing nonspherocytic hemolytic anemia
    • Wang, C., Chiarelli, L.R., Bianchi, P., Abraham, D.J., Galizzi, A., Mattevi, A., Zanella, A. & Valentini, G. (2001) Human erythrocyte pyruvate kinase: characterization of the recombinant enzyme and a mutant form (R510Q) causing nonspherocytic hemolytic anemia. Blood, 98, 3113-3120.
    • (2001) Blood , vol.98 , pp. 3113-3120
    • Wang, C.1    Chiarelli, L.R.2    Bianchi, P.3    Abraham, D.J.4    Galizzi, A.5    Mattevi, A.6    Zanella, A.7    Valentini, G.8
  • 97
    • 0036778254 scopus 로고    scopus 로고
    • Concomitant laparoscopic splenectomy and cholecystectomy as an effective and minimally invasive treatment of pyruvate kinase deficiency with gallstones
    • Watanabe, Y., Miyauchi, K., Horiuchi, A., Kikkawa, H., Kusunose, H., Kotani, T. & Kawachi, K. (2002) Concomitant laparoscopic splenectomy and cholecystectomy as an effective and minimally invasive treatment of pyruvate kinase deficiency with gallstones. Surgical Endoscopy, 16, 1495.
    • (2002) Surgical Endoscopy , vol.16 , pp. 1495
    • Watanabe, Y.1    Miyauchi, K.2    Horiuchi, A.3    Kikkawa, H.4    Kusunose, H.5    Kotani, T.6    Kawachi, K.7
  • 98
    • 79960971313 scopus 로고    scopus 로고
    • Mutations in the human pyruvate kinase gene leading to pyruvate kinase deficiency in the Netherlands
    • abstract
    • van Wijk, R., Huizinga, E.G., Rijksen, G. & van Solinge, W.W. (2001) Mutations in the human pyruvate kinase gene leading to pyruvate kinase deficiency in The Netherlands. Blood, 98, 11a (abstract).
    • (2001) Blood , vol.98
    • Van Wijk, R.1    Huizinga, E.G.2    Rijksen, G.3    Van Solinge, W.W.4
  • 99
    • 0037441602 scopus 로고    scopus 로고
    • Disruption of a novel regulatory element in the erythroid-specific promoter of the human PKLR gene causes severe pyruvate kinase deficiency
    • van Wijk, R., van Solinge, W.W., Nerlov, C., Beutler, E., Gelbart, T., Rijksen, G. & Nielsen, F.C. (2003) Disruption of a novel regulatory element in the erythroid-specific promoter of the human PKLR gene causes severe pyruvate kinase deficiency. Blood, 101, 1596-1602.
    • (2003) Blood , vol.101 , pp. 1596-1602
    • Van Wijk, R.1    Van Solinge, W.W.2    Nerlov, C.3    Beutler, E.4    Gelbart, T.5    Rijksen, G.6    Nielsen, F.C.7
  • 100
    • 2042445716 scopus 로고    scopus 로고
    • Ex vivo analysis of aberrant splicing induced by two donor site mutations in PKLR of a patient with severe pyruvate kinase deficiency
    • van Wijk, R., van Wesel, A.C., Thomas, A.A., Rijksen, G. & van Solinge, W.W. (2004) Ex vivo analysis of aberrant splicing induced by two donor site mutations in PKLR of a patient with severe pyruvate kinase deficiency. British Journal of Haematology, 125, 253-263.
    • (2004) British Journal of Haematology , vol.125 , pp. 253-263
    • Van Wijk, R.1    Van Wesel, A.C.2    Thomas, A.A.3    Rijksen, G.4    Van Solinge, W.W.5
  • 101
    • 0034431029 scopus 로고    scopus 로고
    • Red cell pyruvate kinase (PK) deficiency: From genetics to clinical manifestations
    • Zanella, A. & Bianchi, P. (2000) Red cell pyruvate kinase (PK) deficiency: from genetics to clinical manifestations. Baillere's Clinical Haematology, 13, 57-82.
    • (2000) Baillere's Clinical Haematology , vol.13 , pp. 57-82
    • Zanella, A.1    Bianchi, P.2
  • 109


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