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Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2
Coumarin derivatives such as warfarin represent the therapy of choice for the long-term treatment and prevention of thromboembolic events. Coumarins target blood coagulation by inhibiting the vitaminExpand
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Novel mutations in the VKORC1 gene of wild rats and mice – a response to 50 years of selection pressure by warfarin?
BackgroundCoumarin derivatives have been in world-wide use for rodent pest control for more than 50 years. Due to their retarded action as inhibitors of blood coagulation by repression of the vitaminExpand
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Emicizumab Prophylaxis in Hemophilia A with Inhibitors
Background Emicizumab (ACE910) bridges activated factor IX and factor X to restore the function of activated factor VIII, which is deficient in persons with hemophilia A. This phase 3, multicenterExpand
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F8 gene mutation type and inhibitor development in patients with severe hemophilia A: systematic review and meta-analysis.
This systematic review was designed to provide more precise effect estimates of inhibitor development for the various types of F8 gene mutations in patients with severe hemophilia A. The primaryExpand
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Intensity of factor VIII treatment and inhibitor development in children with severe hemophilia A: the RODIN study.
The objective of this study was to examine the association of the intensity of treatment, ranging from high-dose intensive factor VIII (FVIII) treatment to prophylactic treatment, with the inhibitorExpand
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Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies.
The clinical manifestation of hemophilia A is caused by a wide range of different mutations. In this study the factor VIII genes of 147 severe hemophilia A patients--all exclusively from sporadicExpand
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Emicizumab Prophylaxis in Patients Who Have Hemophilia A without Inhibitors
BACKGROUND Emicizumab is a bispecific monoclonal antibody that bridges activated factor IX and factor X to replace the function of missing activated factor VIII, thereby restoring hemostasis. In aExpand
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Recombinant long-acting glycoPEGylated factor IX in hemophilia B: a multinational randomized phase 3 trial.
This multinational, randomized, single-blind trial investigated the safety and efficacy of nonacog beta pegol, a recombinant glycoPEGylated factor IX (FIX) with extended half-life, in 74 previouslyExpand
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Gain‐of‐Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome
Stormorken syndrome is a rare autosomal dominant disorder characterized by a phenotype that includes miosis, thrombocytopenia/thrombocytopathy with bleeding time diathesis, intellectual disability,Expand
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Haemophilia A: mutation type determines risk of inhibitor formation.
The formation of factor VIII antibodies is a major problem for replacement therapy of haemophilia A patients. Antibodies occur in 5-30% of patients with severe haemophilia A. The reason for antibodyExpand
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