메뉴 건너뛰기




Volumn 60, Issue 6, 2013, Pages 1419-1441

Inherited Abnormalities of Coagulation. Hemophilia, von Willebrand Disease, and Beyond.

Author keywords

Hemophilia; Hemostasis; Rare factor deficiency; Von Willebrand disease

Indexed keywords

ANTIFIBRINOLYTIC AGENT; BLOOD CLOTTING FACTOR 8; BLOOD CLOTTING FACTOR 8 CONCENTRATE; BLOOD CLOTTING FACTOR 9; BLOOD CLOTTING FACTOR 9 CONCENTRATE; DESMOPRESSIN; ENZYME PRECURSOR; TRANEXAMIC ACID; VACCINE; VON WILLEBRAND FACTOR;

EID: 84887528087     PISSN: 00313955     EISSN: 15578240     Source Type: Journal    
DOI: 10.1016/j.pcl.2013.09.002     Document Type: Review
Times cited : (33)

References (102)
  • 1
    • 79952603038 scopus 로고    scopus 로고
    • Platelet disorders in children: a diagnostic approach
    • Israels S.J., Kahr W.H., Blanchette V.S., et al. Platelet disorders in children: a diagnostic approach. Pediatr Blood Cancer 2011, 56(6):975-983.
    • (2011) Pediatr Blood Cancer , vol.56 , Issue.6 , pp. 975-983
    • Israels, S.J.1    Kahr, W.H.2    Blanchette, V.S.3
  • 2
    • 84869214159 scopus 로고    scopus 로고
    • What we have learned from inherited platelet disorders
    • Israels S.J., Rand M.L. What we have learned from inherited platelet disorders. Pediatr Blood Cancer 2013, 60(Suppl 1):S2-S7.
    • (2013) Pediatr Blood Cancer , vol.60 , Issue.SUPPL 1
    • Israels, S.J.1    Rand, M.L.2
  • 4
    • 84864035161 scopus 로고    scopus 로고
    • Inherited disorders of blood coagulation
    • Lippi G., Franchini M., Montagnana M., et al. Inherited disorders of blood coagulation. An Med 2012, 44(5):405-418.
    • (2012) An Med , vol.44 , Issue.5 , pp. 405-418
    • Lippi, G.1    Franchini, M.2    Montagnana, M.3
  • 5
    • 63149161130 scopus 로고    scopus 로고
    • Milestones and perspectives in coagulation and hemostasis
    • Lippi G., Favaloro E.J., Franchini M., et al. Milestones and perspectives in coagulation and hemostasis. Semin Thromb Hemost 2009, 35(1):9-22.
    • (2009) Semin Thromb Hemost , vol.35 , Issue.1 , pp. 9-22
    • Lippi, G.1    Favaloro, E.J.2    Franchini, M.3
  • 7
    • 34347359499 scopus 로고    scopus 로고
    • How to interpret and pursue an abnormal prothrombin time, activated partial thromboplastin time, and bleeding time in adults
    • Kamal A.H., Tefferi A., Pruthi R.K. How to interpret and pursue an abnormal prothrombin time, activated partial thromboplastin time, and bleeding time in adults. Mayo Clin Proc 2007, 82(7):864-873.
    • (2007) Mayo Clin Proc , vol.82 , Issue.7 , pp. 864-873
    • Kamal, A.H.1    Tefferi, A.2    Pruthi, R.K.3
  • 8
    • 0032697618 scopus 로고    scopus 로고
    • Biochemistry and physiology of blood coagulation
    • Mann K.G. Biochemistry and physiology of blood coagulation. Thromb Haemost 1999, 82(2):165-174.
    • (1999) Thromb Haemost , vol.82 , Issue.2 , pp. 165-174
    • Mann, K.G.1
  • 9
    • 84860345296 scopus 로고    scopus 로고
    • Astudy of variations in the reported haemophilia B prevalence around the world
    • Stonebraker J.S., Bolton-Maggs P.H., Michael Soucie J., et al. Astudy of variations in the reported haemophilia B prevalence around the world. Haemophilia 2012, 18(3):e91-e94.
    • (2012) Haemophilia , vol.18 , Issue.3
    • Stonebraker, J.S.1    Bolton-Maggs, P.H.2    Michael Soucie, J.3
  • 10
    • 73949126440 scopus 로고    scopus 로고
    • Astudy of variations in the reported haemophilia A prevalence around the world
    • Stonebraker J.S., Bolton-Maggs P.H., Soucie J.M., et al. Astudy of variations in the reported haemophilia A prevalence around the world. Haemophilia 2010, 16(1):20-32.
    • (2010) Haemophilia , vol.16 , Issue.1 , pp. 20-32
    • Stonebraker, J.S.1    Bolton-Maggs, P.H.2    Soucie, J.M.3
  • 11
    • 0031785486 scopus 로고    scopus 로고
    • Occurrence of hemophilia in the United States. The Hemophilia Surveillance System Project Investigators
    • Soucie J.M., Evatt B., Jackson D. Occurrence of hemophilia in the United States. The Hemophilia Surveillance System Project Investigators. Am J Hematol 1998, 59(4):288-294.
    • (1998) Am J Hematol , vol.59 , Issue.4 , pp. 288-294
    • Soucie, J.M.1    Evatt, B.2    Jackson, D.3
  • 12
    • 0035077234 scopus 로고    scopus 로고
    • Definitions in hemophilia. Recommendation of the scientific subcommittee on factor VIII and factor IX of the scientific and standardization committee of the International Society on Thrombosis and Haemostasis
    • White G.C., Rosendaal F., Aledort L.M., et al. Definitions in hemophilia. Recommendation of the scientific subcommittee on factor VIII and factor IX of the scientific and standardization committee of the International Society on Thrombosis and Haemostasis. Thromb Haemost 2001, 85(3):560.
    • (2001) Thromb Haemost , vol.85 , Issue.3 , pp. 560
    • White, G.C.1    Rosendaal, F.2    Aledort, L.M.3
  • 13
    • 0036218048 scopus 로고    scopus 로고
    • Haemophilia A and haemophilia B: molecular insights
    • Bowen D.J. Haemophilia A and haemophilia B: molecular insights. Mol Pathol 2002, 55(2):127-144.
    • (2002) Mol Pathol , vol.55 , Issue.2 , pp. 127-144
    • Bowen, D.J.1
  • 14
    • 0021750055 scopus 로고
    • Characterization of the human factor VIII gene
    • Gitschier J., Wood W.I., Goralka T.M., et al. Characterization of the human factor VIII gene. Nature 1984, 312(5992):326-330.
    • (1984) Nature , vol.312 , Issue.5992 , pp. 326-330
    • Gitschier, J.1    Wood, W.I.2    Goralka, T.M.3
  • 15
    • 0022257323 scopus 로고
    • Nucleotide sequence of the gene for human factor IX (antihemophilic factor B)
    • Yoshitake S., Schach B.G., Foster D.C., et al. Nucleotide sequence of the gene for human factor IX (antihemophilic factor B). Biochemistry 1985, 24(14):3736-3750.
    • (1985) Biochemistry , vol.24 , Issue.14 , pp. 3736-3750
    • Yoshitake, S.1    Schach, B.G.2    Foster, D.C.3
  • 16
    • 84872102240 scopus 로고    scopus 로고
    • The diagnosis and management of congenital hemophilia
    • Carcao M.D. The diagnosis and management of congenital hemophilia. Semin Thromb Hemost 2012, 38(7):727-734.
    • (2012) Semin Thromb Hemost , vol.38 , Issue.7 , pp. 727-734
    • Carcao, M.D.1
  • 17
    • 19544378856 scopus 로고    scopus 로고
    • Haemophilia A: from mutation analysis to new therapies
    • Graw J., Brackmann H.H., Oldenburg J., et al. Haemophilia A: from mutation analysis to new therapies. Nat Rev Genet 2005, 6(6):488-501.
    • (2005) Nat Rev Genet , vol.6 , Issue.6 , pp. 488-501
    • Graw, J.1    Brackmann, H.H.2    Oldenburg, J.3
  • 18
    • 0031858612 scopus 로고    scopus 로고
    • The molecular basis of haemophilia B
    • Lillicrap D. The molecular basis of haemophilia B. Haemophilia 1998, 4(4):350-357.
    • (1998) Haemophilia , vol.4 , Issue.4 , pp. 350-357
    • Lillicrap, D.1
  • 19
    • 0029095603 scopus 로고
    • Factor VIII gene inversions in severe hemophilia A: results of an international consortium study
    • Antonarakis S.E., Rossiter J.P., Young M., et al. Factor VIII gene inversions in severe hemophilia A: results of an international consortium study. Blood 1995, 86(6):2206-2212.
    • (1995) Blood , vol.86 , Issue.6 , pp. 2206-2212
    • Antonarakis, S.E.1    Rossiter, J.P.2    Young, M.3
  • 20
    • 0028180964 scopus 로고
    • Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cells
    • Rossiter J.P., Young M., Kimberland M.L., et al. Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cells. Hum Mol Genet 1994, 3(7):1035-1039.
    • (1994) Hum Mol Genet , vol.3 , Issue.7 , pp. 1035-1039
    • Rossiter, J.P.1    Young, M.2    Kimberland, M.L.3
  • 21
    • 0028046501 scopus 로고
    • Transcriptional control of the factor IX gene: analysis of five cis-acting elements and the deleterious effects of naturally occurring hemophilia B Leyden mutations
    • Picketts D.J., Mueller C.R., Lillicrap D. Transcriptional control of the factor IX gene: analysis of five cis-acting elements and the deleterious effects of naturally occurring hemophilia B Leyden mutations. Blood 1994, 84(9):2992-3000.
    • (1994) Blood , vol.84 , Issue.9 , pp. 2992-3000
    • Picketts, D.J.1    Mueller, C.R.2    Lillicrap, D.3
  • 22
    • 84880473815 scopus 로고    scopus 로고
    • Correlation between phenotype and genotype in a large unselected cohort of children with severe hemophilia A
    • Carcao M.D., van den Berg H.M., Ljung R., et al. Correlation between phenotype and genotype in a large unselected cohort of children with severe hemophilia A. Blood 2013, 121(19):3946-3952.
    • (2013) Blood , vol.121 , Issue.19 , pp. 3946-3952
    • Carcao, M.D.1    van den Berg, H.M.2    Ljung, R.3
  • 23
    • 84879464259 scopus 로고    scopus 로고
    • Is haemophilia B less severe than haemophilia A?
    • Mannucci P.M., Franchini M. Is haemophilia B less severe than haemophilia A?. Haemophilia 2013, 19(4):499-502.
    • (2013) Haemophilia , vol.19 , Issue.4 , pp. 499-502
    • Mannucci, P.M.1    Franchini, M.2
  • 24
    • 84255177133 scopus 로고    scopus 로고
    • Pediatric hemophilia: a review
    • Kulkarni R., Soucie J.M. Pediatric hemophilia: a review. Semin Thromb Hemost 2011, 37(7):737-744.
    • (2011) Semin Thromb Hemost , vol.37 , Issue.7 , pp. 737-744
    • Kulkarni, R.1    Soucie, J.M.2
  • 25
    • 70449576002 scopus 로고    scopus 로고
    • Sites of initial bleeding episodes, mode of delivery and age of diagnosis in babies with haemophilia diagnosed before the age of 2 years: a report from The Centers for Disease Control and Prevention's (CDC) Universal Data Collection (UDC) project
    • Kulkarni R., Soucie J.M., Lusher J., et al. Sites of initial bleeding episodes, mode of delivery and age of diagnosis in babies with haemophilia diagnosed before the age of 2 years: a report from The Centers for Disease Control and Prevention's (CDC) Universal Data Collection (UDC) project. Haemophilia 2009, 15(6):1281-1290.
    • (2009) Haemophilia , vol.15 , Issue.6 , pp. 1281-1290
    • Kulkarni, R.1    Soucie, J.M.2    Lusher, J.3
  • 26
    • 84855759786 scopus 로고    scopus 로고
    • Neonatal bleeding in haemophilia: a European cohort study
    • Richards M., Lavigne Lissalde G., Combescure C., et al. Neonatal bleeding in haemophilia: a European cohort study. Br J Haematol 2012, 156(3):374-382.
    • (2012) Br J Haematol , vol.156 , Issue.3 , pp. 374-382
    • Richards, M.1    Lavigne Lissalde, G.2    Combescure, C.3
  • 27
    • 0033510285 scopus 로고    scopus 로고
    • Intracranial and extracranial hemorrhages in newborns with hemophilia: a review of the literature
    • Kulkarni R., Lusher J.M. Intracranial and extracranial hemorrhages in newborns with hemophilia: a review of the literature. JPediatr Hematol Oncol 1999, 21(4):289-295.
    • (1999) JPediatr Hematol Oncol , vol.21 , Issue.4 , pp. 289-295
    • Kulkarni, R.1    Lusher, J.M.2
  • 28
    • 77953587111 scopus 로고    scopus 로고
    • The optimal mode of delivery for the haemophilia carrier expecting an affected infant is caesarean delivery
    • James A.H., Hoots K. The optimal mode of delivery for the haemophilia carrier expecting an affected infant is caesarean delivery. Haemophilia 2010, 16(3):420-424.
    • (2010) Haemophilia , vol.16 , Issue.3 , pp. 420-424
    • James, A.H.1    Hoots, K.2
  • 29
    • 77953560045 scopus 로고    scopus 로고
    • The optimal mode of delivery for the haemophilia carrier expecting an affected infant is vaginal delivery
    • Ljung R. The optimal mode of delivery for the haemophilia carrier expecting an affected infant is vaginal delivery. Haemophilia 2010, 16(3):415-419.
    • (2010) Haemophilia , vol.16 , Issue.3 , pp. 415-419
    • Ljung, R.1
  • 30
    • 79959850420 scopus 로고    scopus 로고
    • Guideline on the management of haemophilia in the fetus and neonate
    • Chalmers E., Williams M., Brennand J., et al. Guideline on the management of haemophilia in the fetus and neonate. Br J Haematol 2011, 154(2):208-215.
    • (2011) Br J Haematol , vol.154 , Issue.2 , pp. 208-215
    • Chalmers, E.1    Williams, M.2    Brennand, J.3
  • 31
    • 78650316037 scopus 로고    scopus 로고
    • Associations between intracranial haemorrhage and prescribed prophylaxis in a large cohort of haemophilia patients in the United States
    • Witmer C., Presley R., Kulkarni R., et al. Associations between intracranial haemorrhage and prescribed prophylaxis in a large cohort of haemophilia patients in the United States. Br J Haematol 2011, 152(2):211-216.
    • (2011) Br J Haematol , vol.152 , Issue.2 , pp. 211-216
    • Witmer, C.1    Presley, R.2    Kulkarni, R.3
  • 32
    • 24644521462 scopus 로고    scopus 로고
    • Variability in clinical phenotype of severe haemophilia: the role of the first joint bleed
    • van Dijk K., Fischer K., van der Bom J.G., et al. Variability in clinical phenotype of severe haemophilia: the role of the first joint bleed. Haemophilia 2005, 11(5):438-443.
    • (2005) Haemophilia , vol.11 , Issue.5 , pp. 438-443
    • van Dijk, K.1    Fischer, K.2    van der Bom, J.G.3
  • 33
    • 67649198942 scopus 로고    scopus 로고
    • Interpatient phenotypic inconsistency in severe congenital hemophilia: a systematic review of the role of inherited thrombophilia
    • Franchini M., Montagnana M., Targher G., et al. Interpatient phenotypic inconsistency in severe congenital hemophilia: a systematic review of the role of inherited thrombophilia. Semin Thromb Hemost 2009, 35(3):307-312.
    • (2009) Semin Thromb Hemost , vol.35 , Issue.3 , pp. 307-312
    • Franchini, M.1    Montagnana, M.2    Targher, G.3
  • 34
    • 4444334037 scopus 로고    scopus 로고
    • Do prothrombotic factors influence clinical phenotype of severe haemophilia? A review of the literature
    • van Dijk K., van der Bom J.G., Fischer K., et al. Do prothrombotic factors influence clinical phenotype of severe haemophilia? A review of the literature. Thromb Haemost 2004, 92(2):305-310.
    • (2004) Thromb Haemost , vol.92 , Issue.2 , pp. 305-310
    • van Dijk, K.1    van der Bom, J.G.2    Fischer, K.3
  • 35
    • 77956489886 scopus 로고    scopus 로고
    • Blood-induced joint disease: the pathophysiology of hemophilic arthropathy
    • Valentino L.A. Blood-induced joint disease: the pathophysiology of hemophilic arthropathy. JThromb Haemost 2010, 8(9):1895-1902.
    • (2010) JThromb Haemost , vol.8 , Issue.9 , pp. 1895-1902
    • Valentino, L.A.1
  • 36
    • 84863216759 scopus 로고    scopus 로고
    • Management of muscle haematomas in patients with severe haemophilia in an evidence-poor world
    • Sorensen B., Benson G.M., Bladen M., et al. Management of muscle haematomas in patients with severe haemophilia in an evidence-poor world. Haemophilia 2012, 18(4):598-606.
    • (2012) Haemophilia , vol.18 , Issue.4 , pp. 598-606
    • Sorensen, B.1    Benson, G.M.2    Bladen, M.3
  • 37
    • 78651072422 scopus 로고    scopus 로고
    • Pelvic pseudotumor and pseudoaneurysm in a pediatric patient with moderate hemophilia B: successful management with arterial embolization and surgical excision
    • Kumar R., Pruthi R.K., Kobrinsky N., et al. Pelvic pseudotumor and pseudoaneurysm in a pediatric patient with moderate hemophilia B: successful management with arterial embolization and surgical excision. Pediatr Blood Cancer 2011, 56(3):484-487.
    • (2011) Pediatr Blood Cancer , vol.56 , Issue.3 , pp. 484-487
    • Kumar, R.1    Pruthi, R.K.2    Kobrinsky, N.3
  • 38
    • 84860305819 scopus 로고    scopus 로고
    • Management of bleeding disorders in children
    • Berntorp E., Halimeh S., Gringeri A., et al. Management of bleeding disorders in children. Haemophilia 2012, 18(Suppl 2):15-23.
    • (2012) Haemophilia , vol.18 , Issue.SUPPL 2 , pp. 15-23
    • Berntorp, E.1    Halimeh, S.2    Gringeri, A.3
  • 39
    • 84860323900 scopus 로고    scopus 로고
    • Recommendations for assessment, monitoring and follow-up of patients with haemophilia
    • de Moerloose P., Fischer K., Lambert T., et al. Recommendations for assessment, monitoring and follow-up of patients with haemophilia. Haemophilia 2012, 18(3):319-325.
    • (2012) Haemophilia , vol.18 , Issue.3 , pp. 319-325
    • de Moerloose, P.1    Fischer, K.2    Lambert, T.3
  • 40
    • 84869222261 scopus 로고    scopus 로고
    • Importance of pharmacokinetics in the management of hemophilia
    • Barnes C. Importance of pharmacokinetics in the management of hemophilia. Pediatr Blood Cancer 2013, 60(Suppl 1):S27-S29.
    • (2013) Pediatr Blood Cancer , vol.60 , Issue.SUPPL 1
    • Barnes, C.1
  • 41
    • 74749088081 scopus 로고    scopus 로고
    • Factor VIII requirement to maintain a target plasma level in the prophylactic treatment of severe hemophilia A: influences of variance in pharmacokinetics and treatment regimens
    • Collins P.W., Bjorkman S., Fischer K., et al. Factor VIII requirement to maintain a target plasma level in the prophylactic treatment of severe hemophilia A: influences of variance in pharmacokinetics and treatment regimens. JThromb Haemost 2010, 8(2):269-275.
    • (2010) JThromb Haemost , vol.8 , Issue.2 , pp. 269-275
    • Collins, P.W.1    Bjorkman, S.2    Fischer, K.3
  • 42
    • 84865561893 scopus 로고    scopus 로고
    • Continuous infusion in haemophilia: current practice in Europe
    • Batorova A., Holme P., Gringeri A., et al. Continuous infusion in haemophilia: current practice in Europe. Haemophilia 2012, 18(5):753-759.
    • (2012) Haemophilia , vol.18 , Issue.5 , pp. 753-759
    • Batorova, A.1    Holme, P.2    Gringeri, A.3
  • 43
    • 33746716248 scopus 로고    scopus 로고
    • Continuous infusion of coagulation factors: current opinion
    • Batorova A., Martinowitz U. Continuous infusion of coagulation factors: current opinion. Curr Opin Hematol 2006, 13(5):308-315.
    • (2006) Curr Opin Hematol , vol.13 , Issue.5 , pp. 308-315
    • Batorova, A.1    Martinowitz, U.2
  • 46
    • 0030859270 scopus 로고    scopus 로고
    • Desmopressin: twenty years after
    • Mannucci P.M., Ghirardini A. Desmopressin: twenty years after. Thromb Haemost 1997, 78(2):958.
    • (1997) Thromb Haemost , vol.78 , Issue.2 , pp. 958
    • Mannucci, P.M.1    Ghirardini, A.2
  • 47
    • 84355166758 scopus 로고    scopus 로고
    • DDAVP responsiveness in children with mild or moderate haemophilia A correlates with age, endogenous FVIII: C level and with haemophilic genotype
    • Seary M.E., Feldman D., Carcao M.D. DDAVP responsiveness in children with mild or moderate haemophilia A correlates with age, endogenous FVIII: C level and with haemophilic genotype. Haemophilia 2012, 18(1):50-55.
    • (2012) Haemophilia , vol.18 , Issue.1 , pp. 50-55
    • Seary, M.E.1    Feldman, D.2    Carcao, M.D.3
  • 49
    • 0013836217 scopus 로고
    • Haemophilia in Sweden. VII. Incidence, treatment and prophylaxis of arthropathy and other musculo-skeletal manifestations of haemophilia A and B
    • Ahlberg A. Haemophilia in Sweden. VII. Incidence, treatment and prophylaxis of arthropathy and other musculo-skeletal manifestations of haemophilia A and B. Acta Orthop Scand Suppl 1965, (Suppl 77):73-132.
    • (1965) Acta Orthop Scand Suppl , Issue.SUPPL 77 , pp. 73-132
    • Ahlberg, A.1
  • 50
    • 0026635406 scopus 로고
    • Twenty-five years' experience of prophylactic treatment in severe haemophilia A and B
    • Nilsson I.M., Berntorp E., Lofqvist T., et al. Twenty-five years' experience of prophylactic treatment in severe haemophilia A and B. JIntern Med 1992, 232(1):25-32.
    • (1992) JIntern Med , vol.232 , Issue.1 , pp. 25-32
    • Nilsson, I.M.1    Berntorp, E.2    Lofqvist, T.3
  • 51
    • 34547757915 scopus 로고    scopus 로고
    • Prophylaxis versus episodic treatment to prevent joint disease in boys with severe hemophilia
    • Manco-Johnson M.J., Abshire T.C., Shapiro A.D., et al. Prophylaxis versus episodic treatment to prevent joint disease in boys with severe hemophilia. NEngl J Med 2007, 357(6):535-544.
    • (2007) NEngl J Med , vol.357 , Issue.6 , pp. 535-544
    • Manco-Johnson, M.J.1    Abshire, T.C.2    Shapiro, A.D.3
  • 52
    • 78649903536 scopus 로고    scopus 로고
    • Venous access in the management of hemophilia
    • Valentino L.A., Kawji M., Grygotis M. Venous access in the management of hemophilia. Blood Rev 2011, 25(1):11-15.
    • (2011) Blood Rev , vol.25 , Issue.1 , pp. 11-15
    • Valentino, L.A.1    Kawji, M.2    Grygotis, M.3
  • 53
    • 33646759553 scopus 로고    scopus 로고
    • Tailored prophylaxis in severe hemophilia A: interim results from the first 5 years of the Canadian Hemophilia Primary Prophylaxis Study
    • Feldman B.M., Pai M., Rivard G.E., et al. Tailored prophylaxis in severe hemophilia A: interim results from the first 5 years of the Canadian Hemophilia Primary Prophylaxis Study. JThromb Haemost 2006, 4(6):1228-1236.
    • (2006) JThromb Haemost , vol.4 , Issue.6 , pp. 1228-1236
    • Feldman, B.M.1    Pai, M.2    Rivard, G.E.3
  • 54
    • 84859377204 scopus 로고    scopus 로고
    • Biological rationale for new drugs in the bleeding disorders pipeline
    • Fogarty P.F. Biological rationale for new drugs in the bleeding disorders pipeline. Hematology Am Soc Hematol Educ Program 2011, 2011:397-404.
    • (2011) Hematology Am Soc Hematol Educ Program , vol.2011 , pp. 397-404
    • Fogarty, P.F.1
  • 55
    • 84855161388 scopus 로고    scopus 로고
    • Adenovirus-associated virus vector-mediated gene transfer in hemophilia B
    • Nathwani A.C., Tuddenham E.G., Rangarajan S., et al. Adenovirus-associated virus vector-mediated gene transfer in hemophilia B. NEngl J Med 2011, 365(25):2357-2365.
    • (2011) NEngl J Med , vol.365 , Issue.25 , pp. 2357-2365
    • Nathwani, A.C.1    Tuddenham, E.G.2    Rangarajan, S.3
  • 56
    • 69949096687 scopus 로고    scopus 로고
    • Paediatric haemophilia with inhibitors: existing management options, treatment gaps and unmet needs
    • Santagostino E., Morfini M., Auerswald G.K., et al. Paediatric haemophilia with inhibitors: existing management options, treatment gaps and unmet needs. Haemophilia 2009, 15(5):983-989.
    • (2009) Haemophilia , vol.15 , Issue.5 , pp. 983-989
    • Santagostino, E.1    Morfini, M.2    Auerswald, G.K.3
  • 57
    • 84863419863 scopus 로고    scopus 로고
    • F8 gene mutation type and inhibitor development in patients with severe hemophilia A: systematic review and meta-analysis
    • Gouw S.C., van den Berg H.M., Oldenburg J., et al. F8 gene mutation type and inhibitor development in patients with severe hemophilia A: systematic review and meta-analysis. Blood 2012, 119(12):2922-2934.
    • (2012) Blood , vol.119 , Issue.12 , pp. 2922-2934
    • Gouw, S.C.1    van den Berg, H.M.2    Oldenburg, J.3
  • 58
    • 77449101167 scopus 로고    scopus 로고
    • Impact of polymorphisms of the major histocompatibility complex class II, interleukin-10, tumor necrosis factor-alpha and cytotoxic T-lymphocyte antigen-4 genes on inhibitor development in severe hemophilia A
    • Pavlova A., Delev D., Lacroix-Desmazes S., et al. Impact of polymorphisms of the major histocompatibility complex class II, interleukin-10, tumor necrosis factor-alpha and cytotoxic T-lymphocyte antigen-4 genes on inhibitor development in severe hemophilia A. JThromb Haemost 2009, 7(12):2006-2015.
    • (2009) JThromb Haemost , vol.7 , Issue.12 , pp. 2006-2015
    • Pavlova, A.1    Delev, D.2    Lacroix-Desmazes, S.3
  • 59
    • 34249711370 scopus 로고    scopus 로고
    • Recombinant versus plasma-derived factor VIII products and the development of inhibitors in previously untreated patients with severe hemophilia A: the CANAL cohort study
    • Gouw S.C., van der Bom J.G., Auerswald G., et al. Recombinant versus plasma-derived factor VIII products and the development of inhibitors in previously untreated patients with severe hemophilia A: the CANAL cohort study. Blood 2007, 109(11):4693-4697.
    • (2007) Blood , vol.109 , Issue.11 , pp. 4693-4697
    • Gouw, S.C.1    van der Bom, J.G.2    Auerswald, G.3
  • 60
    • 84872450786 scopus 로고    scopus 로고
    • Factor VIII products and inhibitor development in severe hemophilia A
    • Gouw S.C., van der Bom J.G., Ljung R., et al. Factor VIII products and inhibitor development in severe hemophilia A. NEngl J Med 2013, 368(3):231-239.
    • (2013) NEngl J Med , vol.368 , Issue.3 , pp. 231-239
    • Gouw, S.C.1    van der Bom, J.G.2    Ljung, R.3
  • 61
    • 77954506432 scopus 로고    scopus 로고
    • Rate of inhibitor development in previously untreated hemophilia A patients treated with plasma-derived or recombinant factor VIII concentrates: a systematic review
    • Iorio A., Halimeh S., Holzhauer S., et al. Rate of inhibitor development in previously untreated hemophilia A patients treated with plasma-derived or recombinant factor VIII concentrates: a systematic review. JThromb Haemost 2010, 8(6):1256-1265.
    • (2010) JThromb Haemost , vol.8 , Issue.6 , pp. 1256-1265
    • Iorio, A.1    Halimeh, S.2    Holzhauer, S.3
  • 62
    • 33846185403 scopus 로고    scopus 로고
    • Arandomized comparison of bypassing agents in hemophilia complicated by an inhibitor: the FEIBA NovoSeven Comparative (FENOC) Study
    • Astermark J., Donfield S.M., DiMichele D.M., et al. Arandomized comparison of bypassing agents in hemophilia complicated by an inhibitor: the FEIBA NovoSeven Comparative (FENOC) Study. Blood 2007, 109(2):546-551.
    • (2007) Blood , vol.109 , Issue.2 , pp. 546-551
    • Astermark, J.1    Donfield, S.M.2    DiMichele, D.M.3
  • 63
    • 84856866914 scopus 로고    scopus 로고
    • The principal results of the International Immune Tolerance Study: a randomized dose comparison
    • Hay C.R., DiMichele D.M. The principal results of the International Immune Tolerance Study: a randomized dose comparison. Blood 2012, 119(6):1335-1344.
    • (2012) Blood , vol.119 , Issue.6 , pp. 1335-1344
    • Hay, C.R.1    DiMichele, D.M.2
  • 64
    • 33750988816 scopus 로고    scopus 로고
    • Inhibitor treatment in haemophilias A and B: summary statement for the 2006 international consensus conference
    • Berntorp E., Shapiro A., Astermark J., et al. Inhibitor treatment in haemophilias A and B: summary statement for the 2006 international consensus conference. Haemophilia 2006, 12(Suppl 6):1-7.
    • (2006) Haemophilia , vol.12 , Issue.SUPPL 6 , pp. 1-7
    • Berntorp, E.1    Shapiro, A.2    Astermark, J.3
  • 65
    • 33646686129 scopus 로고    scopus 로고
    • The diagnosis and management of factor VIII and IX inhibitors: a guideline from the United Kingdom Haemophilia Centre Doctors Organisation
    • Hay C.R., Brown S., Collins P.W., et al. The diagnosis and management of factor VIII and IX inhibitors: a guideline from the United Kingdom Haemophilia Centre Doctors Organisation. Br J Haematol 2006, 133(6):591-605.
    • (2006) Br J Haematol , vol.133 , Issue.6 , pp. 591-605
    • Hay, C.R.1    Brown, S.2    Collins, P.W.3
  • 66
    • 0023164845 scopus 로고
    • Epidemiological investigation of the prevalence of von Willebrand's disease
    • Rodeghiero F., Castaman G., Dini E. Epidemiological investigation of the prevalence of von Willebrand's disease. Blood 1987, 69(2):454-459.
    • (1987) Blood , vol.69 , Issue.2 , pp. 454-459
    • Rodeghiero, F.1    Castaman, G.2    Dini, E.3
  • 67
    • 0027458101 scopus 로고
    • Prevalence of von Willebrand disease in children: a multiethnic study
    • Werner E.J., Broxson E.H., Tucker E.L., et al. Prevalence of von Willebrand disease in children: a multiethnic study. JPediatr 1993, 123(6):893-898.
    • (1993) JPediatr , vol.123 , Issue.6 , pp. 893-898
    • Werner, E.J.1    Broxson, E.H.2    Tucker, E.L.3
  • 68
    • 73049112574 scopus 로고    scopus 로고
    • The prevalence of symptomatic von Willebrand disease in primary care practice
    • Bowman M., Hopman W.M., Rapson D., et al. The prevalence of symptomatic von Willebrand disease in primary care practice. JThromb Haemost 2010, 8(1):213-216.
    • (2010) JThromb Haemost , vol.8 , Issue.1 , pp. 213-216
    • Bowman, M.1    Hopman, W.M.2    Rapson, D.3
  • 69
    • 84875812623 scopus 로고    scopus 로고
    • The molecular characterization of von Willebrand disease: good in parts
    • James P.D., Lillicrap D. The molecular characterization of von Willebrand disease: good in parts. Br J Haematol 2013, 161(2):166-176.
    • (2013) Br J Haematol , vol.161 , Issue.2 , pp. 166-176
    • James, P.D.1    Lillicrap, D.2
  • 71
    • 0024331438 scopus 로고
    • Structure of the gene for human von Willebrand factor
    • Mancuso D.J., Tuley E.A., Westfield L.A., et al. Structure of the gene for human von Willebrand factor. JBiol Chem 1989, 264(33):19514-19527.
    • (1989) JBiol Chem , vol.264 , Issue.33 , pp. 19514-19527
    • Mancuso, D.J.1    Tuley, E.A.2    Westfield, L.A.3
  • 72
    • 0022351182 scopus 로고
    • Substructure of human von Willebrand factor
    • Fowler W.E., Fretto L.J., Hamilton K.K., et al. Substructure of human von Willebrand factor. JClin Invest 1985, 76(4):1491-1500.
    • (1985) JClin Invest , vol.76 , Issue.4 , pp. 1491-1500
    • Fowler, W.E.1    Fretto, L.J.2    Hamilton, K.K.3
  • 73
    • 0036893186 scopus 로고    scopus 로고
    • ADAMTS-13 rapidly cleaves newly secreted ultralarge von Willebrand factor multimers on the endothelial surface under flowing conditions
    • Dong J.F., Moake J.L., Nolasco L., et al. ADAMTS-13 rapidly cleaves newly secreted ultralarge von Willebrand factor multimers on the endothelial surface under flowing conditions. Blood 2002, 100(12):4033-4039.
    • (2002) Blood , vol.100 , Issue.12 , pp. 4033-4039
    • Dong, J.F.1    Moake, J.L.2    Nolasco, L.3
  • 74
    • 33751219230 scopus 로고    scopus 로고
    • An investigation of the von Willebrand factor genotype in UK patients diagnosed to have type 1 von Willebrand disease
    • Cumming A., Grundy P., Keeney S., et al. An investigation of the von Willebrand factor genotype in UK patients diagnosed to have type 1 von Willebrand disease. Thromb Haemost 2006, 96(5):630-641.
    • (2006) Thromb Haemost , vol.96 , Issue.5 , pp. 630-641
    • Cumming, A.1    Grundy, P.2    Keeney, S.3
  • 75
    • 33845967766 scopus 로고    scopus 로고
    • Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MCMDM-1VWD)
    • Goodeve A., Eikenboom J., Castaman G., et al. Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MCMDM-1VWD). Blood 2007, 109(1):112-121.
    • (2007) Blood , vol.109 , Issue.1 , pp. 112-121
    • Goodeve, A.1    Eikenboom, J.2    Castaman, G.3
  • 76
    • 33846026307 scopus 로고    scopus 로고
    • The mutational spectrum of type 1 von Willebrand disease: results from a Canadian cohort study
    • James P.D., Notley C., Hegadorn C., et al. The mutational spectrum of type 1 von Willebrand disease: results from a Canadian cohort study. Blood 2007, 109(1):145-154.
    • (2007) Blood , vol.109 , Issue.1 , pp. 145-154
    • James, P.D.1    Notley, C.2    Hegadorn, C.3
  • 77
    • 33748802581 scopus 로고    scopus 로고
    • Update on the pathophysiology and classification of von Willebrand disease: a report of the Subcommittee on von Willebrand Factor
    • Sadler J.E., Budde U., Eikenboom J.C., et al. Update on the pathophysiology and classification of von Willebrand disease: a report of the Subcommittee on von Willebrand Factor. JThromb Haemost 2006, 4(10):2103-2114.
    • (2006) JThromb Haemost , vol.4 , Issue.10 , pp. 2103-2114
    • Sadler, J.E.1    Budde, U.2    Eikenboom, J.C.3
  • 78
    • 7144227947 scopus 로고    scopus 로고
    • The Platelet Function Analyzer (PFA-100): a novel in-vitro system for evaluation of primary haemostasis in children
    • Carcao M.D., Blanchette V.S., Dean J.A., et al. The Platelet Function Analyzer (PFA-100): a novel in-vitro system for evaluation of primary haemostasis in children. Br J Haematol 1998, 101(1):70-73.
    • (1998) Br J Haematol , vol.101 , Issue.1 , pp. 70-73
    • Carcao, M.D.1    Blanchette, V.S.2    Dean, J.A.3
  • 79
    • 0033828195 scopus 로고    scopus 로고
    • Von Willebrand disease in a pediatric-based population-comparison of type 1 diagnostic criteria and use of the PFA-100 and a von Willebrand factor/collagen-binding assay
    • Dean J.A., Blanchette V.S., Carcao M.D., et al. von Willebrand disease in a pediatric-based population-comparison of type 1 diagnostic criteria and use of the PFA-100 and a von Willebrand factor/collagen-binding assay. Thromb Haemost 2000, 84(3):401-409.
    • (2000) Thromb Haemost , vol.84 , Issue.3 , pp. 401-409
    • Dean, J.A.1    Blanchette, V.S.2    Carcao, M.D.3
  • 80
    • 0027236046 scopus 로고
    • Associations of factor VIII and von Willebrand factor with age, race, sex, and risk factors for atherosclerosis. The Atherosclerosis Risk in Communities (ARIC) Study
    • Conlan M.G., Folsom A.R., Finch A., et al. Associations of factor VIII and von Willebrand factor with age, race, sex, and risk factors for atherosclerosis. The Atherosclerosis Risk in Communities (ARIC) Study. Thromb Haemost 1993, 70(3):380-385.
    • (1993) Thromb Haemost , vol.70 , Issue.3 , pp. 380-385
    • Conlan, M.G.1    Folsom, A.R.2    Finch, A.3
  • 81
    • 33748926468 scopus 로고    scopus 로고
    • ABO blood group determines plasma von Willebrand factor levels: a biologic function after all?
    • Jenkins P.V., O'Donnell J.S. ABO blood group determines plasma von Willebrand factor levels: a biologic function after all?. Transfusion 2006, 46(10):1836-1844.
    • (2006) Transfusion , vol.46 , Issue.10 , pp. 1836-1844
    • Jenkins, P.V.1    O'Donnell, J.S.2
  • 82
    • 83055187115 scopus 로고    scopus 로고
    • Von Willebrand disease (VWD): evidence-based diagnosis and management guidelines, the National Heart, Lung, and Blood Institute (NHLBI) Expert Panel report (USA)
    • Nichols W.L., Hultin M.B., James A.H., et al. von Willebrand disease (VWD): evidence-based diagnosis and management guidelines, the National Heart, Lung, and Blood Institute (NHLBI) Expert Panel report (USA). Haemophilia 2008, 14(2):171-232.
    • (2008) Haemophilia , vol.14 , Issue.2 , pp. 171-232
    • Nichols, W.L.1    Hultin, M.B.2    James, A.H.3
  • 83
    • 80052680438 scopus 로고    scopus 로고
    • Therapeutic consequences for misdiagnosis of type 2N von Willebrand disease
    • Gupta M., Lillicrap D., Stain A.M., et al. Therapeutic consequences for misdiagnosis of type 2N von Willebrand disease. Pediatr Blood Cancer 2011, 57(6):1081-1083.
    • (2011) Pediatr Blood Cancer , vol.57 , Issue.6 , pp. 1081-1083
    • Gupta, M.1    Lillicrap, D.2    Stain, A.M.3
  • 84
    • 79951875991 scopus 로고    scopus 로고
    • Intranasal oestrogen cream for the prevention of epistaxis in patients with bleeding disorders
    • Ross C.S., Pruthi R.K., Schmidt K.A., et al. Intranasal oestrogen cream for the prevention of epistaxis in patients with bleeding disorders. Haemophilia 2011, 17(1):164.
    • (2011) Haemophilia , vol.17 , Issue.1 , pp. 164
    • Ross, C.S.1    Pruthi, R.K.2    Schmidt, K.A.3
  • 85
    • 84869223744 scopus 로고    scopus 로고
    • The use of DDAVP in children with bleeding disorders
    • Ben-Ami T., Revel-Vilk S. The use of DDAVP in children with bleeding disorders. Pediatr Blood Cancer 2013, 60(Suppl 1):S41-S43.
    • (2013) Pediatr Blood Cancer , vol.60 , Issue.SUPPL 1
    • Ben-Ami, T.1    Revel-Vilk, S.2
  • 86
    • 84870998006 scopus 로고    scopus 로고
    • Prophylaxis in severe forms of von Willebrand's disease: results from the von Willebrand Disease Prophylaxis Network (VWD PN)
    • Abshire T.C., Federici A.B., Alvarez M.T., et al. Prophylaxis in severe forms of von Willebrand's disease: results from the von Willebrand Disease Prophylaxis Network (VWD PN). Haemophilia 2013, 19(1):76-81.
    • (2013) Haemophilia , vol.19 , Issue.1 , pp. 76-81
    • Abshire, T.C.1    Federici, A.B.2    Alvarez, M.T.3
  • 87
    • 66849141406 scopus 로고    scopus 로고
    • How I treat von Willebrand disease
    • Rodeghiero F., Castaman G., Tosetto A. How I treat von Willebrand disease. Blood 2009, 114(6):1158-1165.
    • (2009) Blood , vol.114 , Issue.6 , pp. 1158-1165
    • Rodeghiero, F.1    Castaman, G.2    Tosetto, A.3
  • 88
    • 84869234422 scopus 로고    scopus 로고
    • The rare inherited coagulation disorders
    • Bolton-Maggs P.H. The rare inherited coagulation disorders. Pediatr Blood Cancer 2013, 60(Suppl 1):S37-S40.
    • (2013) Pediatr Blood Cancer , vol.60 , Issue.SUPPL 1
    • Bolton-Maggs, P.H.1
  • 89
    • 4444269047 scopus 로고    scopus 로고
    • Recessively inherited coagulation disorders
    • Mannucci P.M., Duga S., Peyvandi F. Recessively inherited coagulation disorders. Blood 2004, 104(5):1243-1252.
    • (2004) Blood , vol.104 , Issue.5 , pp. 1243-1252
    • Mannucci, P.M.1    Duga, S.2    Peyvandi, F.3
  • 91
    • 55949122505 scopus 로고    scopus 로고
    • Factor XI deficiency
    • Gomez K., Bolton-Maggs P. Factor XI deficiency. Haemophilia 2008, 14(6):1183-1189.
    • (2008) Haemophilia , vol.14 , Issue.6 , pp. 1183-1189
    • Gomez, K.1    Bolton-Maggs, P.2
  • 92
    • 55949124238 scopus 로고    scopus 로고
    • Factor VII deficiency: defining the clinical picture and optimizing therapeutic options
    • Lapecorella M., Mariani G. Factor VII deficiency: defining the clinical picture and optimizing therapeutic options. Haemophilia 2008, 14(6):1170-1175.
    • (2008) Haemophilia , vol.14 , Issue.6 , pp. 1170-1175
    • Lapecorella, M.1    Mariani, G.2
  • 93
    • 56649091112 scopus 로고    scopus 로고
    • National and international registries of rare bleeding disorders
    • Peyvandi F., Spreafico M. National and international registries of rare bleeding disorders. Blood Transfus 2008, 6(Suppl 2):s45-s48.
    • (2008) Blood Transfus , vol.6 , Issue.SUPPL 2
    • Peyvandi, F.1    Spreafico, M.2
  • 94
    • 84865772629 scopus 로고    scopus 로고
    • Classification of rare bleeding disorders (RBDs) based on the association between coagulant factor activity and clinical bleeding severity
    • Peyvandi F., Di Michele D., Bolton-Maggs P.H., et al. Classification of rare bleeding disorders (RBDs) based on the association between coagulant factor activity and clinical bleeding severity. JThromb Haemost 2012, 10(9):1938-1943.
    • (2012) JThromb Haemost , vol.10 , Issue.9 , pp. 1938-1943
    • Peyvandi, F.1    Di Michele, D.2    Bolton-Maggs, P.H.3
  • 95
    • 79959821022 scopus 로고    scopus 로고
    • Diagnosis and classification of factor XIII deficiencies
    • Kohler H.P., Ichinose A., Seitz R., et al. Diagnosis and classification of factor XIII deficiencies. JThromb Haemost 2011, 9(7):1404-1406.
    • (2011) JThromb Haemost , vol.9 , Issue.7 , pp. 1404-1406
    • Kohler, H.P.1    Ichinose, A.2    Seitz, R.3
  • 96
    • 56049098385 scopus 로고    scopus 로고
    • Rare inherited disorders of fibrinogen
    • Acharya S.S., Dimichele D.M. Rare inherited disorders of fibrinogen. Haemophilia 2008, 14(6):1151-1158.
    • (2008) Haemophilia , vol.14 , Issue.6 , pp. 1151-1158
    • Acharya, S.S.1    Dimichele, D.M.2
  • 97
    • 55949088269 scopus 로고    scopus 로고
    • Factor XIII deficiency
    • Hsieh L., Nugent D. Factor XIII deficiency. Haemophilia 2008, 14(6):1190-1200.
    • (2008) Haemophilia , vol.14 , Issue.6 , pp. 1190-1200
    • Hsieh, L.1    Nugent, D.2
  • 98
    • 84861796622 scopus 로고    scopus 로고
    • Recombinant factor XIII: a safe and novel treatment for congenital factor XIII deficiency
    • Inbal A., Oldenburg J., Carcao M., et al. Recombinant factor XIII: a safe and novel treatment for congenital factor XIII deficiency. Blood 2012, 119(22):5111-5117.
    • (2012) Blood , vol.119 , Issue.22 , pp. 5111-5117
    • Inbal, A.1    Oldenburg, J.2    Carcao, M.3
  • 99
    • 55949085217 scopus 로고    scopus 로고
    • Diagnosis and treatment of inherited factor X deficiency
    • Brown D.L., Kouides P.A. Diagnosis and treatment of inherited factor X deficiency. Haemophilia 2008, 14(6):1176-1182.
    • (2008) Haemophilia , vol.14 , Issue.6 , pp. 1176-1182
    • Brown, D.L.1    Kouides, P.A.2
  • 100
    • 56049090060 scopus 로고    scopus 로고
    • Factor V deficiency: a concise review
    • Huang J.N., Koerper M.A. Factor V deficiency: a concise review. Haemophilia 2008, 14(6):1164-1169.
    • (2008) Haemophilia , vol.14 , Issue.6 , pp. 1164-1169
    • Huang, J.N.1    Koerper, M.A.2
  • 101
    • 55949101419 scopus 로고    scopus 로고
    • Abnormalities of prothrombin: a review of the pathophysiology, diagnosis, and treatment
    • Meeks S.L., Abshire T.C. Abnormalities of prothrombin: a review of the pathophysiology, diagnosis, and treatment. Haemophilia 2008, 14(6):1159-1163.
    • (2008) Haemophilia , vol.14 , Issue.6 , pp. 1159-1163
    • Meeks, S.L.1    Abshire, T.C.2
  • 102
    • 4844229372 scopus 로고    scopus 로고
    • The rare coagulation disorders-review with guidelines for management from the United Kingdom Haemophilia Centre Doctors' Organisation
    • Bolton-Maggs P.H., Perry D.J., Chalmers E.A., et al. The rare coagulation disorders-review with guidelines for management from the United Kingdom Haemophilia Centre Doctors' Organisation. Haemophilia 2004, 10(5):593-628.
    • (2004) Haemophilia , vol.10 , Issue.5 , pp. 593-628
    • Bolton-Maggs, P.H.1    Perry, D.J.2    Chalmers, E.A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.