메뉴 건너뛰기




Volumn 99, Issue 3, 2008, Pages 630-631

Von Willebrand disease, type 2B: A diagnosis more elusive than previously thought

Author keywords

[No Author keywords available]

Indexed keywords

ANTIGEN; COLLAGEN BINDING PROTEIN; DESMOPRESSIN; RISTOCETIN; VON WILLEBRAND FACTOR;

EID: 42249099817     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH07-12-0758     Document Type: Letter
Times cited : (2)

References (18)
  • 1
    • 36949030473 scopus 로고    scopus 로고
    • A novel von Willebrand factor mutation (I1372S) associated with type 2B-like von Willebrand disease: An elusive phenotype and a difficult diagnosis
    • Casonato A, Sartorello F, Pontara E, et al. A novel von Willebrand factor mutation (I1372S) associated with type 2B-like von Willebrand disease: An elusive phenotype and a difficult diagnosis. Thromb Haemost 2007; 98: 1182-1187.
    • (2007) Thromb Haemost , vol.98 , pp. 1182-1187
    • Casonato, A.1    Sartorello, F.2    Pontara, E.3
  • 2
    • 34247096143 scopus 로고    scopus 로고
    • Altered von Willebrand factor subunit proteolysis and multimer processing associated with the Cys2362Phe mutation in the B2 domain
    • Casonato A, De Marco L, Gallinaro L, et al. Altered von Willebrand factor subunit proteolysis and multimer processing associated with the Cys2362Phe mutation in the B2 domain. Thromb Haemost 2007; 97: 527-533.
    • (2007) Thromb Haemost , vol.97 , pp. 527-533
    • Casonato, A.1    De Marco, L.2    Gallinaro, L.3
  • 3
    • 33748802581 scopus 로고    scopus 로고
    • Update on the pathophysiology and classification of von Willebrand disease: A report of the Subcommittee on von Willebrand Factor
    • and the Working Party on von Willebrand Disease Classification
    • Sadler JE, Budde U, Eikenboom JCJ, et al. and the Working Party on von Willebrand Disease Classification. Update on the pathophysiology and classification of von Willebrand disease: a report of the Subcommittee on von Willebrand Factor. J Thromb Haemost 2006; 4: 2103-2114.
    • (2006) J Thromb Haemost , vol.4 , pp. 2103-2114
    • Sadler, J.E.1    Budde, U.2    Eikenboom, J.C.J.3
  • 4
    • 38549092555 scopus 로고    scopus 로고
    • Platelet Type-von Willebrand disease and Type 2B von Willebrand disease: A story of non-identical twins when two different genetic abnormalities evolve into similar phenotypes
    • Othman M. Platelet Type-von Willebrand disease and Type 2B von Willebrand disease: A story of non-identical twins when two different genetic abnormalities evolve into similar phenotypes. Semin Thromb Hemost 2007; 33: 780-786.
    • (2007) Semin Thromb Hemost , vol.33 , pp. 780-786
    • Othman, M.1
  • 5
    • 43149092271 scopus 로고    scopus 로고
    • Favaloro EJ. Phenotypic identification of Platelet Type-von Willebrand disease and its discrimination from Type 2B von Willebrand disease: A question of 2B or not 2B? A story of non-identical twins? Or two-sides of a multi-denominational or multi-faceted primary haemostasis coin? Semin Thromb Hemost 2008; 34: in press.
    • Favaloro EJ. Phenotypic identification of Platelet Type-von Willebrand disease and its discrimination from Type 2B von Willebrand disease: A question of 2B or not 2B? A story of non-identical twins? Or two-sides of a multi-denominational or multi-faceted primary haemostasis coin? Semin Thromb Hemost 2008; 34: in press.
  • 6
    • 35748955202 scopus 로고    scopus 로고
    • Differential identification of a rare form of platelet-type (pseudo-) von Willebrand disease from Type 2B VWD using a simplified ristocetin-induced-platelet-agglutination (RIPA) mixing assay and confirmed by genetic analysis
    • Favaloro EJ, Patterson D, Denholm A, et al. Differential identification of a rare form of platelet-type (pseudo-) von Willebrand disease from Type 2B VWD using a simplified ristocetin-induced-platelet-agglutination (RIPA) mixing assay and confirmed by genetic analysis. Br J Haematol 2007; 139: 623-626.
    • (2007) Br J Haematol , vol.139 , pp. 623-626
    • Favaloro, E.J.1    Patterson, D.2    Denholm, A.3
  • 7
    • 33947517303 scopus 로고    scopus 로고
    • A second report of platelet-type von Willebrand disease with a Gly233Ser mutation in the GPIBA gene
    • Nurden P, Lanza F, Bonnafous-Faurie C, et al. A second report of platelet-type von Willebrand disease with a Gly233Ser mutation in the GPIBA gene. Thromb Haemost 2007; 97: 319-321.
    • (2007) Thromb Haemost , vol.97 , pp. 319-321
    • Nurden, P.1    Lanza, F.2    Bonnafous-Faurie, C.3
  • 8
    • 33746602713 scopus 로고    scopus 로고
    • Laboratory identification of von Willebrand Disease: Technical and scientific perspectives
    • Favaloro EJ. Laboratory identification of von Willebrand Disease: Technical and scientific perspectives. Semin Thromb Hemost 2006; 32: 456-471.
    • (2006) Semin Thromb Hemost , vol.32 , pp. 456-471
    • Favaloro, E.J.1
  • 9
    • 34547890673 scopus 로고    scopus 로고
    • on behalf of the RCPA QAP in Haematology. 2B or not 2B? Disparate discrimination of functional VWF discordance using different assay panels or methodologies may lead to success or failure in the early identification of Type 2B VWD
    • Favaloro EJ, Bonar R, Meiring M, et al. on behalf of the RCPA QAP in Haematology. 2B or not 2B? Disparate discrimination of functional VWF discordance using different assay panels or methodologies may lead to success or failure in the early identification of Type 2B VWD. Thromb Haemost 2007; 98: 346-358.
    • (2007) Thromb Haemost , vol.98 , pp. 346-358
    • Favaloro, E.J.1    Bonar, R.2    Meiring, M.3
  • 10
    • 34447511355 scopus 로고    scopus 로고
    • Type 2B von Willebrand disease in seven individuals from three different families: Phenotypic and genotypic characterization
    • Szántó T, Schlammadinger A, Salles I, et al. Type 2B von Willebrand disease in seven individuals from three different families: phenotypic and genotypic characterization. Thromb Haemost 2007; 98: 251-254.
    • (2007) Thromb Haemost , vol.98 , pp. 251-254
    • Szántó, T.1    Schlammadinger, A.2    Salles, I.3
  • 11
    • 0035106087 scopus 로고    scopus 로고
    • Von Willebrand factor collagen binding activity in the diagnosis of von Willebrand disease: An alternative to ristocetin co-factor activity?
    • Casonato A, Pontara E, Bertomoro A, et al. Von Willebrand factor collagen binding activity in the diagnosis of von Willebrand disease: an alternative to ristocetin co-factor activity? Br J Haematol 2001; 112: 578-583.
    • (2001) Br J Haematol , vol.112 , pp. 578-583
    • Casonato, A.1    Pontara, E.2    Bertomoro, A.3
  • 12
    • 0036234931 scopus 로고    scopus 로고
    • von Willebrand factor (VWF) collagen binding (activity) assay (VWF:CBA) in the diagnosis of von Willebrand's disorder (VWD): A 15-year journey
    • Favaloro EJ. von Willebrand factor (VWF) collagen binding (activity) assay (VWF:CBA) in the diagnosis of von Willebrand's disorder (VWD): A 15-year journey. Semin Thromb Hemost 2002; 28: 191-202.
    • (2002) Semin Thromb Hemost , vol.28 , pp. 191-202
    • Favaloro, E.J.1
  • 13
    • 38549157588 scopus 로고    scopus 로고
    • An update on the von Willebrand factor collagen binding assay: 21 years of age and beyond adolescence but not yet a mature adult
    • Favaloro EJ. An update on the von Willebrand factor collagen binding assay: 21 years of age and beyond adolescence but not yet a mature adult. Semin Thromb Hemost 2007; 33: 727-744.
    • (2007) Semin Thromb Hemost , vol.33 , pp. 727-744
    • Favaloro, E.J.1
  • 14
    • 34247606049 scopus 로고    scopus 로고
    • High prevalence of bleeders of unknown cause among patients with inherited mucocutaneous bleeding. Prospective study of 280 patients and 299 controls
    • Quiroga T, Goycoolea M, Panes O, Aranda E, Martínez C, Belmont S, Muñoz B, Zúñiga P, Pereira J, Mezzano D. High prevalence of bleeders of unknown cause among patients with inherited mucocutaneous bleeding. Prospective study of 280 patients and 299 controls. Haematologica 2007; 92: 356-364.
    • (2007) Haematologica , vol.92 , pp. 356-364
    • Quiroga, T.1    Goycoolea, M.2    Panes, O.3    Aranda, E.4    Martínez, C.5    Belmont, S.6    Muñoz, B.7    Zúñiga, P.8    Pereira, J.9    Mezzano, D.10
  • 15
    • 34247637309 scopus 로고    scopus 로고
    • Investigating people with mucocutaneous bleeding suggestive of primary haemostatic defects: Low likelihood of definitive diagnosis?
    • Favaloro EJ. Investigating people with mucocutaneous bleeding suggestive of primary haemostatic defects: Low likelihood of definitive diagnosis? Haematologica 2007; 92: 292-296.
    • (2007) Haematologica , vol.92 , pp. 292-296
    • Favaloro, E.J.1
  • 16
    • 0034655308 scopus 로고    scopus 로고
    • Sulfatide-binding assay for von Willebrand factor: Detection of von Willebrands disease without discrimination of VWD subtypes
    • Favaloro EJ. Sulfatide-binding assay for von Willebrand factor: Detection of von Willebrands disease without discrimination of VWD subtypes. Thromb Res 2000; 98: 213-219.
    • (2000) Thromb Res , vol.98 , pp. 213-219
    • Favaloro, E.J.1
  • 17
    • 33746650150 scopus 로고    scopus 로고
    • The utility of the PFA-100 in identification of von Willebrand Disease: A concise review
    • Favaloro EJ. The utility of the PFA-100 in identification of von Willebrand Disease: A concise review. Semin Thromb Hemost 2006; 32: 537-545.
    • (2006) Semin Thromb Hemost , vol.32 , pp. 537-545
    • Favaloro, E.J.1
  • 18
    • 37549033499 scopus 로고    scopus 로고
    • The effect of exercise on von Willebrand factor and ADAMTS-13 in individuals with type 1 and type 2B von Willebrand disease
    • Stakiw J, Bowman M, Hegadorn C, et al. The effect of exercise on von Willebrand factor and ADAMTS-13 in individuals with type 1 and type 2B von Willebrand disease. J Thromb Haemost 2007; 6: 90-96.
    • (2007) J Thromb Haemost , vol.6 , pp. 90-96
    • Stakiw, J.1    Bowman, M.2    Hegadorn, C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.