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Volumn 334, Issue 12, 1996, Pages 763-768

Coexistence of hereditary homocystinuria and Factor V Leiden - Effect on thrombosis

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 5; HOMOCYSTINE; PROTEIN C; WARFARIN;

EID: 0029933176     PISSN: 00284793     EISSN: None     Source Type: Journal    
DOI: 10.1056/NEJM199603213341204     Document Type: Article
Times cited : (286)

References (42)
  • 1
    • 0024359963 scopus 로고
    • Betaine for treatment of homocystinuria caused by methylenetetrahydrofolate reductase deficiency
    • Holme E, Kjellman B, Ronge E. Betaine for treatment of homocystinuria caused by methylenetetrahydrofolate reductase deficiency. Arch Dis Child 1989;64:1061-4
    • (1989) Arch Dis Child , vol.64 , pp. 1061-1064
    • Holme, E.1    Kjellman, B.2    Ronge, E.3
  • 3
    • 0000443712 scopus 로고
    • Inherited disorders of folate transport and metabolism
    • Scriver CR, Beaudet AL, Sly WS, Valle DL, eds New York: McGraw-Hill
    • Rosenblatt DS. Inherited disorders of folate transport and metabolism. In: Scriver CR, Beaudet AL, Sly WS, Valle DL, eds The metabolic and molecular bases of inherited disease, 7th ed. Vol 2. New York: McGraw-Hill, 1995:3111-28
    • (1995) The Metabolic and Molecular Bases of Inherited Disease, 7th Ed. , vol.2 , pp. 3111-3128
    • Rosenblatt, D.S.1
  • 4
    • 0000526332 scopus 로고
    • Inherited disorders of cobalamin transport and metabolism
    • Scriver CR, Beaudet AL, Sly WS, Valle DL, eds. New York: McGraw-Hill
    • Fenton WA, Rosenberg LE Inherited disorders of cobalamin transport and metabolism. In: Scriver CR, Beaudet AL, Sly WS, Valle DL, eds. The metabolic and molecular bases of inherited disease. 7th ed. Vol. 2. New York: McGraw-Hill, 1995:3129-49
    • (1995) The Metabolic and Molecular Bases of Inherited Disease. 7th Ed. , vol.2 , pp. 3129-3149
    • Fenton, W.A.1    Rosenberg, L.E.2
  • 5
    • 0027382008 scopus 로고
    • Vitamin status and intake as primary determinants of homocysteinemia in an elderly population
    • Selhub J, Jacques PF, Wilson PW, Rush D, Rosenberg IH. Vitamin status and intake as primary determinants of homocysteinemia in an elderly population. JAMA 1993;270.2693-8.
    • (1993) JAMA , vol.270 , pp. 2693-2698
    • Selhub, J.1    Jacques, P.F.2    Wilson, P.W.3    Rush, D.4    Rosenberg, I.H.5
  • 6
    • 0028966321 scopus 로고
    • Association between plasma homocysteine concentrations and extracranial carotid-artery stenosis
    • Selhub J, Jacques PF, Bostom AG, et al Association between plasma homocysteine concentrations and extracranial carotid-artery stenosis. N Engl J Med 1995,332:286-91.
    • (1995) N Engl J Med , vol.332 , pp. 286-291
    • Selhub, J.1    Jacques, P.F.2    Bostom, A.G.3
  • 7
    • 0021894152 scopus 로고
    • The natural history of homocystinuria due to cystathionine β-synthase deficiency
    • Mudd SH, Skovby F, Levy HL, et al. The natural history of homocystinuria due to cystathionine β-synthase deficiency. Am J Hum Genet 1985;37:1-31.
    • (1985) Am J Hum Genet , vol.37 , pp. 1-31
    • Mudd, S.H.1    Skovby, F.2    Levy, H.L.3
  • 8
    • 0028959158 scopus 로고
    • Inherited thrombophilia: Resistance to activated protein C as a pathogenic factor of venous thromboembolism
    • Dahlback B. Inherited thrombophilia: resistance to activated protein C as a pathogenic factor of venous thromboembolism Blood 1995;85:607-14
    • (1995) Blood , vol.85 , pp. 607-614
    • Dahlback, B.1
  • 9
    • 0023096623 scopus 로고
    • The regulation of natural anticoagulant pathways
    • Esmon CT The regulation of natural anticoagulant pathways. Science 1987; 235:1348-52.
    • (1987) Science , vol.235 , pp. 1348-1352
    • Esmon, C.T.1
  • 10
    • 0028314865 scopus 로고
    • Mutation in blood coagulation factor V associated with resistance to activated protein C
    • Bertina RM, Koeleman BPC, Koster T, et al. Mutation in blood coagulation factor V associated with resistance to activated protein C Nature 1994,369: 647.
    • (1994) Nature , vol.369 , pp. 647
    • Bertina, R.M.1    Koeleman, B.P.C.2    Koster, T.3
  • 11
  • 12
    • 0027520285 scopus 로고
    • Venous thrombosis due to poor anticoagulant response to activated protein C. Leiden Thrombophilia Study
    • Koster T, Rosendaal FR, de Ronde H, Briet E, Vandenbroucke JP, Bertina RM. Venous thrombosis due to poor anticoagulant response to activated protein C. Leiden Thrombophilia Study. Lancet 1993;342:1503-6.
    • (1993) Lancet , vol.342 , pp. 1503-1506
    • Koster, T.1    Rosendaal, F.R.2    De Ronde, H.3    Briet, E.4    Vandenbroucke, J.P.5    Bertina, R.M.6
  • 13
    • 0028931717 scopus 로고
    • High risk of thrombosis in patients homozygous for factor V Leiden (activated protein C resistance)
    • Rosendaal FR, Koster T, Vandenbroucke JP, Reitsma PH. High risk of thrombosis in patients homozygous for factor V Leiden (activated protein C resistance). Blood 1995;85:1504-8.
    • (1995) Blood , vol.85 , pp. 1504-1508
    • Rosendaal, F.R.1    Koster, T.2    Vandenbroucke, J.P.3    Reitsma, P.H.4
  • 14
    • 0028000665 scopus 로고
    • Activated protein C resistance as an additional risk factor for thrombosis in protein C-deficient families
    • Koeleman BPC, Reitsma PH, Allaart CF, Bertina RM. Activated protein C resistance as an additional risk factor for thrombosis in protein C-deficient families. Blood 1994,84:1031-5
    • (1994) Blood , vol.84 , pp. 1031-1035
    • Koeleman, B.P.C.1    Reitsma, P.H.2    Allaart, C.F.3    Bertina, R.M.4
  • 16
    • 0028029477 scopus 로고
    • Increased risk of venous thrombosis in oral-contraceptive users who are carriers of factor V Leiden mutation
    • Vandenbroucke JP, Koster T, Briet E, Reitsma PH. Bertina RM, Rosendaal FR. Increased risk of venous thrombosis in oral-contraceptive users who are carriers of factor V Leiden mutation Lancet 1994;344:1453-7.
    • (1994) Lancet , vol.344 , pp. 1453-1457
    • Vandenbroucke, J.P.1    Koster, T.2    Briet, E.3    Reitsma, P.H.4    Bertina, R.M.5    Rosendaal, F.R.6
  • 17
    • 0025848779 scopus 로고
    • Rapid high-performance liquid chromatography assay for total homocysteine levels in human serum
    • Ubbink JB, Vermaak WJH, Bissbort S Rapid high-performance liquid chromatography assay for total homocysteine levels in human serum J Chromatogr 1991;565:441-6.
    • (1991) J Chromatogr , vol.565 , pp. 441-446
    • Ubbink, J.B.1    Vermaak, W.J.H.2    Bissbort, S.3
  • 20
    • 0014436240 scopus 로고
    • Cystathionine synthase in tissue culture derived from human skin: Enzyme defect in homocystinuria
    • Uhlendorf BW, Mudd SH Cystathionine synthase in tissue culture derived from human skin: enzyme defect in homocystinuria. Science 1968; 160: 1007-9.
    • (1968) Science , vol.160 , pp. 1007-1009
    • Uhlendorf, B.W.1    Mudd, S.H.2
  • 21
    • 0022389993 scopus 로고
    • Cobalamin inactivation decreases purine and methionine synthesis in cultured lymphoblasts
    • Boss GR. Cobalamin inactivation decreases purine and methionine synthesis in cultured lymphoblasts. J Clin Invest 1985;76:213-8.
    • (1985) J Clin Invest , vol.76 , pp. 213-218
    • Boss, G.R.1
  • 22
    • 0017749386 scopus 로고
    • Methylenetetrahydrofolate reductase in cultured human cells. II. Genetic and biochemical studies of methylenetetrahydro-folate reductase deficiency
    • Rosenblatt DS, Erbe RW. Methylenetetrahydrofolate reductase in cultured human cells. II. Genetic and biochemical studies of methylenetetrahydro-folate reductase deficiency. Pediatr Res 1977;11:1141-3.
    • (1977) Pediatr Res , vol.11 , pp. 1141-1143
    • Rosenblatt, D.S.1    Erbe, R.W.2
  • 23
    • 13344258634 scopus 로고
    • 12) coenzyme synthesis and cobalamin-dependent enzymes in cultured skin fibroblasts
    • 12) coenzyme synthesis and cobalamin-dependent enzymes in cultured skin fibroblasts Enzyme Protein 1994,47.180-1.
    • (1994) Enzyme Protein , vol.47 , pp. 180-181
    • Fowler, B.1    Wenzel, F.2    Baumgartner, E.R.3
  • 26
    • 0024509966 scopus 로고
    • Microvillus inclusion disease: An inherited defect of brush-border assembly and differentiation
    • Cutz E, Rhoads JM, Drumm B, Sherman PM, Durie PR, Forstner GG. Microvillus inclusion disease: an inherited defect of brush-border assembly and differentiation. N Engl J Med 1989;320:646-51
    • (1989) N Engl J Med , vol.320 , pp. 646-651
    • Cutz, E.1    Rhoads, J.M.2    Drumm, B.3    Sherman, P.M.4    Durie, P.R.5    Forstner, G.G.6
  • 27
    • 0029050714 scopus 로고
    • Incidence of activated protein C resistance caused by the ARG 506 GLN mutation in factor V in 113 unrelated symptomatic protein C-deficient patients
    • Gandrille S, Greengard JS, Alhenc-Gelas M, et al. Incidence of activated protein C resistance caused by the ARG 506 GLN mutation in factor V in 113 unrelated symptomatic protein C-deficient patients Blood 1995;86: 219-24
    • (1995) Blood , vol.86 , pp. 219-224
    • Gandrille, S.1    Greengard, J.S.2    Alhenc-Gelas, M.3
  • 28
    • 0029016883 scopus 로고
    • Resistance to activated protein C as an additional genetic risk factor in hereditary deficiency of protein S
    • Zoller B, Berntsdotter A, de Frutos PG, Dahlback B Resistance to activated protein C as an additional genetic risk factor in hereditary deficiency of protein S. Blood 1995;85:3518-23.
    • (1995) Blood , vol.85 , pp. 3518-3523
    • Zoller, B.1    Berntsdotter, A.2    De Frutos, P.G.3    Dahlback, B.4
  • 29
    • 0342623881 scopus 로고
    • Interaction of factor V Leiden with inherited antithrombin deficiency
    • abstract
    • van Boven HH, Reitsma PH, Rosendaal FR, et al. Interaction of factor V Leiden with inherited antithrombin deficiency Thromb Haemost 1995;73: 1256 abstract.
    • (1995) Thromb Haemost , vol.73 , pp. 1256
    • Van Boven, H.H.1    Reitsma, P.H.2    Rosendaal, F.R.3
  • 30
    • 0029080220 scopus 로고
    • Management of patients with hereditary defects predisposing to thrombosis including pregnant women
    • Bauer KA. Management of patients with hereditary defects predisposing to thrombosis including pregnant women. Thromb Haemost 1995;74:94-100.
    • (1995) Thromb Haemost , vol.74 , pp. 94-100
    • Bauer, K.A.1
  • 31
    • 23444436924 scopus 로고
    • Arterial and venous thromboembolism with fatal outcome and resistance to activated protein C
    • Lindblad B, Svensson PJ, Dahlback B. Arterial and venous thromboembolism with fatal outcome and resistance to activated protein C. Lancet 1994; 343:917
    • (1994) Lancet , vol.343 , pp. 917
    • Lindblad, B.1    Svensson, P.J.2    Dahlback, B.3
  • 32
    • 0027999556 scopus 로고
    • Variability of thrombosis among homozygous siblings with resistance to activated protein C due to an Arg→Gln mutation in the gene for factor V
    • Greengard JS, Eichinger S, Griffin JH, Bauer KA Variability of thrombosis among homozygous siblings with resistance to activated protein C due to an Arg→Gln mutation in the gene for factor V N Engl J Med 1994;331.1559-62
    • (1994) N Engl J Med , vol.331 , pp. 1559-1562
    • Greengard, J.S.1    Eichinger, S.2    Griffin, J.H.3    Bauer, K.A.4
  • 33
    • 0026571546 scopus 로고
    • Intrauterine growth retardation, perinatal death, and maternal homocysteine levels
    • Burke G, Robinson K, Refsum H, Stuart B, Graham I. Intrauterine growth retardation, perinatal death, and maternal homocysteine levels. N Engl J Med 1994;326 69-70.
    • (1994) N Engl J Med , vol.326 , pp. 69-70
    • Burke, G.1    Robinson, K.2    Refsum, H.3    Stuart, B.4    Graham, I.5
  • 34
    • 0024357804 scopus 로고
    • Antiphospholipid antibodies and recurrent pregnancy loss
    • Triplett DA. Antiphospholipid antibodies and recurrent pregnancy loss. Am J Reprod Immunol 1989;20:52-67
    • (1989) Am J Reprod Immunol , vol.20 , pp. 52-67
    • Triplett, D.A.1
  • 35
    • 0022472013 scopus 로고
    • Activation of endogenous factor V by a homocysteine-induced vascular endothelial cell activator
    • Rodgers GM, Kane WH. Activation of endogenous factor V by a homocysteine-induced vascular endothelial cell activator. J Clin Invest 1986;77. 1909-16.
    • (1986) J Clin Invest , vol.77 , pp. 1909-1916
    • Rodgers, G.M.1    Kane, W.H.2
  • 36
    • 0025190042 scopus 로고
    • Homocysteine, an atherogenic stimulus, reduces protein C activation by arterial and venous endothelial cells
    • Rodgers GM, Conn MT. Homocysteine, an atherogenic stimulus, reduces protein C activation by arterial and venous endothelial cells. Blood 1990; 75:895-901.
    • (1990) Blood , vol.75 , pp. 895-901
    • Rodgers, G.M.1    Conn, M.T.2
  • 37
    • 0026345948 scopus 로고
    • Inhibition of thrombomodulin surface expression and protein C activation by the thrombogenic agent homocysteine
    • Lentz SR, Sadler JE. Inhibition of thrombomodulin surface expression and protein C activation by the thrombogenic agent homocysteine J Clin Invest 1991;88.1906-14.
    • (1991) J Clin Invest , vol.88 , pp. 1906-1914
    • Lentz, S.R.1    Sadler, J.E.2
  • 38
    • 0025756673 scopus 로고
    • Hyperhomocysteinemia: An independent risk factor for vascular disease
    • Clarke R, Daly L, Robinson K, et al. Hyperhomocysteinemia: an independent risk factor for vascular disease N Engl J Med 1991;324.1149-55
    • (1991) N Engl J Med , vol.324 , pp. 1149-1155
    • Clarke, R.1    Daly, L.2    Robinson, K.3
  • 40
    • 0027234122 scopus 로고
    • Homocysteinemia: Association of a metabolic disorder with vascular disease and thrombosis
    • Rees MM, Rodgers GM. Homocysteinemia: association of a metabolic disorder with vascular disease and thrombosis. Thromb Res 1993;71:337-59
    • (1993) Thromb Res , vol.71 , pp. 337-359
    • Rees, M.M.1    Rodgers, G.M.2
  • 42
    • 0028949953 scopus 로고
    • Is hyperhomocysteinaemia a risk factor for recurrent venous thrombosis?
    • Den Heijer M, Blom HJ, Gerrits WBJ, et al. Is hyperhomocysteinaemia a risk factor for recurrent venous thrombosis? Lancet 1995;345:882-5.
    • (1995) Lancet , vol.345 , pp. 882-885
    • Den Heijer, M.1    Blom, H.J.2    Gerrits, W.B.J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.