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Combined factor V and factor VIII deficiency
Тромбоз, гемостаз и реология, 2023 Наследственный сочетанный дефицит факторов свертывания крови V (FV) и VIII (FVIII) является редкой наследственной коагулопатией. Недостаточность публикаций об этом заболевании в Российской Федерации создает препятствие оказанию помощи таким больным.
Е.В. Яковлева +1 more
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A Comprehensive Overview of Coagulation Factor V and Congenital Factor V Deficiency
Seminars in Thrombosis and Hemostasis, 2019AbstractCoagulation factor (F) V is a glycoprotein that plays an essential role in the formation of the prothrombinase complex, which is critical for progressing clot formation. FV deficiency is a rare bleeding disorder with an estimated incidence of one per 1 million in the general population.
Shadi, Tabibian +8 more
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Parahemophilia: New Insights into Factor V Deficiency
Seminars in Thrombosis and Hemostasis, 2013Blood coagulation factor V (FV) plays a pivotal role in blood coagulation. It is found in both plasma and in platelets and has a profound impact on thrombin generation. Deficiency of this clotting factor due to inherited or acquired conditions results in a broad spectrum of bleeding symptoms. Surprisingly however, some patients with undetectable levels
Nabil, Thalji, Rodney M, Camire
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Homozygous factor V splice site mutation associated with severe factor V deficiency
Blood, 2002Abstract We investigated a family whose proband has a severe bleeding disorder and factor V antigenic and functional levels of 8% and less than 1% of control values, respectively. Molecular analysis of the factor V gene revealed a novel homozygous mutation in the last nucleotide of exon 10.
Iris, Schrijver +3 more
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Seminars in Thrombosis and Hemostasis, 2021
Coagulation factor V (or FV for the purpose of medical safety) is an essential cofactor of coagulation factor X in the common pathway of coagulation; severe FV deficiency leads to a bleeding tendency. Although both congenital and acquired FV deficiencies
A. Ichinose, T. Osaki, M. Souri
semanticscholar +1 more source
Coagulation factor V (or FV for the purpose of medical safety) is an essential cofactor of coagulation factor X in the common pathway of coagulation; severe FV deficiency leads to a bleeding tendency. Although both congenital and acquired FV deficiencies
A. Ichinose, T. Osaki, M. Souri
semanticscholar +1 more source
Haemophilia, 2020
Factor V (FV) deficiency is a monogenic inherited coagulation disorder considered to be an ideal indication for gene therapy. To investigate the possibility of therapeutic application of genome editing, we generated induced pluripotent stem cells (iPSCs)
Takayuki Nakamura +13 more
semanticscholar +1 more source
Factor V (FV) deficiency is a monogenic inherited coagulation disorder considered to be an ideal indication for gene therapy. To investigate the possibility of therapeutic application of genome editing, we generated induced pluripotent stem cells (iPSCs)
Takayuki Nakamura +13 more
semanticscholar +1 more source
Combined Factor V and Factor VIII Deficiency
Seminars in Thrombosis and Hemostasis, 2009Combined deficiency of factor V (FV) and factor VIII (FVIII) (F5F8D, or FV+FVIII) is a autosomal recessive bleeding disorder caused by mutations in genes encoding two components of the endoplasmic reticulum (ER)-Golgi intermediate compartment (ERGIC-53), that is, lectin mannose binding protein ( LMAN1) and multiple coagulation factor deficiency 2 ...
Marta, Spreafico, Flora, Peyvandi
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Platelet transfusion as treatment for factor V deficiency in the parturient: a case report
Transfusion, 2019Congenital factor V deficiency, also called parahemophilia, is a rare hematological disorder that can be treated with platelet transfusion.
D. Drzymalski +4 more
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Congenital Factor V Deficiency
Scandinavian Journal of Haematology, 1978A 14‐month‐old girl suffering from a heavy bleeding tendency, caused by a severe isolated congenital factor V deficiency is described. In this study 56 family members were examined. 10 of them had a factor V level ranging 26–60% of the normal – these were classified as heterozygotes.
G, Mitterstieler, W, Müller, W, Geir
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Acquired Factor V Deficiency Associated with CFPM Administration.
Clinical Laboratory, 2019BACKGROUND Acquired factor V deficiency (AFVD) caused by Factor V (FV) inhibition is a rare event, characterized by prolonged prothrombin time and activated partial thromboplastin time. To date, various factors were reported as triggers for developing FV
M. Yamanishi +4 more
semanticscholar +1 more source