Two cases of von Willebrand disease type 3 in consanguineous Chinese families
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DOI: 10.1002/mgg3.1075
Abstract: von Willebrand disease (VWD) is the most common inherited bleeding disorder caused by defective or deficient von Willebrand factor (VWF). VWD type 3 is inherited in autosomal recessive manner. We described clinical and molecular features… read more here.
Keywords: willebrand; two cases; von willebrand; type ... See more keywords
Type 1 von Willebrand Disease in a Pediatric Patient Caused by a Novel Heterozygous Deletion of Exons 1 to 6 of the von Willebrand Factor Gene: A Case Report.
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DOI: 10.1093/labmed/lmac138
Abstract: A 6-year-old boy was referred to a hematologist due to excessive mucocutaneous bleeding. Diagnostic assessment for von Willebrand disease (VWD) was indicated and included both coagulation and genetic testing. Laboratory testing revealed proportionally decreased von… read more here.
Keywords: willebrand; willebrand disease; factor; von willebrand ... See more keywords
von Willebrand disease type1/type 2N compound heterozygotes: diagnostic and management challenges
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DOI: 10.1111/bjh.14028
Abstract: Keywords: von Willebrand disease; von Willebrand factor; factor VIII; bleeding; genetics of thrombosis and haemostasis read more here.
Keywords: type1 type; disease type1; willebrand; von willebrand ... See more keywords
Platelet degranulation and bleeding phenotype in a large cohort of Von Willebrand disease patients
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DOI: 10.1111/bjh.18145
Abstract: Von Willebrand disease (VWD) is a bleeding disorder caused by quantitative (type 1 or 3) or qualitative (type 2A/2B/2M/2N) defects of circulating von Willebrand factor (VWF). Circulating VWF levels not always fully explain bleeding phenotypes,… read more here.
Keywords: platelet degranulation; willebrand; willebrand disease; large cohort ... See more keywords
Accounting for differences in healthcare utilization and expenditures among US males with haemophilia by type of health insurance
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DOI: 10.1111/hae.13161
Abstract: 1 Sadler JE, Budde U, Eikenboom JCJ et al. Update on the pathophysiology and classification of von Willebrand disease: a report of the Subcommittee on von Willebrand Factor. J Thromb Haemost 2006; 4: 2103–14. 2… read more here.
Keywords: willebrand; thromb haemost; von willebrand; type ... See more keywords
Successful multi‐modal immune tolerance induction for factor IX deficiency with inhibitors and allergic reactions
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DOI: 10.1111/hae.13457
Abstract: 2. Schneppenheim R, Federici AB, Budde U, et al. von Willebrand disease type 2M “Vicenza” in Italian and German patients: identification of the first candidate mutation (G3864A; R1205H) in 8 families. Thromb Haemost. 2000;82:136-140. 3.… read more here.
Keywords: factor; willebrand; von willebrand; willebrand disease ... See more keywords
Samuel Armstrong Lane's first successful treatment of haemophilia with blood transfusion in 1840: Could this also be the first successful bypassing therapy?
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DOI: 10.1111/hae.13645
Abstract: 1. Simone JV, Cornet JA, Abildgaard CF. Acquired von Willebrand’s syn‐ drome in systemic lupus erythematosus. Blood. 1968;31(6):806‐812. 2. Federici AB, RandJH, et al. Acquired von Willebrand syn‐ drome: data from an international registry. Thromb… read more here.
Keywords: willebrand syndrome; willebrand; blood; von willebrand ... See more keywords
Efficacy of emicizumab in von Willebrand disease (VWD) patients with and without alloantibodies to von Willebrand factor (VWF): Report of two cases and review of literature
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DOI: 10.1111/hae.14491
Abstract: von Willebrand disease (VWD) is the common bleeding disorder with a clinically relevant bleeding prevalence of 1:10,000. von Willebrand disease patients lack both von Willebrand factor (VWF) and factor VIII (FVIII), which are critical for… read more here.
Keywords: willebrand; von willebrand; vwd; willebrand disease ... See more keywords
The dominant p.Thr274Pro mutation in the von Willebrand factor propeptide causes the von Willebrand disease type 1 phenotype in two unrelated patients
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DOI: 10.1111/hae.14494
Abstract: von Willebrand factor propeptide (VWFpp) plays an important role in VWF multimerization and storage. VWFpp mutations have been previously associated with types 1, 3 and 2A/IIC von Willebrand disease (VWD). read more here.
Keywords: willebrand factor; willebrand; factor propeptide; von willebrand ... See more keywords
von Willebrand disease and von Willebrand factor
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DOI: 10.1111/hae.14547
Abstract: Progress in both basic and translational research into the molecular mechanisms of VWD can be seen in multiple fields. read more here.
Keywords: willebrand; willebrand factor; willebrand disease; von willebrand ... See more keywords
Quantification of the relationship between desmopressin concentration and Von Willebrand factor in Von Willebrand disease type 1: A pharmacodynamic study
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DOI: 10.1111/hae.14582
Abstract: Desmopressin can be used to prevent bleeding in von Willebrand disease (VWD), but the relationship between desmopressin and von Willebrand factor activity (VWF:Act) has yet to be quantified. read more here.
Keywords: willebrand; willebrand factor; willebrand disease; von willebrand ... See more keywords