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The Molecular Genetics of von Willebrand Disease
Quantitative and/or qualitative deficiency of von Willebrand factor (vWF) is associated with the most common inherited bleeding disease von Willebrand disease (vWD). vWD is a complex disease with clinical and genetic heterogeneity.
Ergül Berber
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Spontaneous iliopsoas muscle hematoma in a patient with von Willebrand disease: a case report
Introduction Iliopsoas hemorrhage is a serious complication of bleeding disorders that occurs most commonly in patients with hemophilia and less commonly in patients with von Willebrand disease.
Soltani Shirazi Ahmad, Keikhaei Bijan
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Mechanisms of thrombocytopenia in platelet-type von Willebrand disease [PDF]
Platelet-type von Willebrand disease is an inherited platelet disorder characterized by thrombocytopenia with large platelets caused by gain-of-function variants in GP1BA leading to enhanced GPIbα-von Willebrand factor (vWF) interaction.
Loredana Bury +5 more
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Treatment of Von Willebrand Disease [PDF]
SummaryIn von Willebrand disease, there are two main options for the treatment of spontaneous bleeding episodes and for bleeding prophylaxis: desmopressin and transfusional therapy with plasma products. Desmopressin is the treatment of choice for most patients with type 1, who account for approximately 70 to 80 per cent of all cases with the disease ...
C. A. Lee +5 more
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Von Willebrand Disease in the elderly: clinical perspectives
John Chapin Department of Hematology, Shire, Lexington, MA, USA Abstract: Von Willebrand disease (VWD) is an inherited bleeding disorder that affects up to 1% of the population. In most cases, VWD results from a mutation in the von Willebrand Factor (VWF)
Chapin J
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Pseudo (Platelet-type) von Willebrand disease in pregnancy: a case report
Background Pseudo (platelet-type)-von Willebrand disease is a rare autosomal dominant bleeding disorder caused by an abnormal function of the glycoprotein lb protein; the receptor for von Willebrand factor.
Grover Neetu +2 more
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This report describes the first case of splenic injury in a patient with p.V1316M-associated von Willebrand disease type 2B (VWD2B) with chronic thrombocytopenia, successfully treated with nonoperative management including von Willebrand factor (VWF ...
Caterina Casari +8 more
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Background Pregnancy in von Willebrand’s disease may carry a significant risk of bleeding. Information on changes in factor VIII and von Willebrand factor and pregnancy outcome in relation to von Willebrand factor gene mutations are very scanty.Design ...
Giancarlo Castaman +2 more
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The carboxyl-terminal domains of von Willebrand factor, D4-CK, are cysteine-rich implying that they are structurally important. In this study we characterized the impact of five cysteine missense mutations residing in D4-CK domains on the conformation ...
Hamideh Yadegari +6 more
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Fifth Åland Island conference on von Willebrand disease [PDF]
The fifth Åland Island meeting on von Willebrand disease (VWD) was held on the Åland Islands, Finland, from 22 to 24 September 2016 – 90 years after the first case of VWD was diagnosed in a patient from the Åland Islands in 1926.
Windyga, J +73 more
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