نتایج جستجو برای: combined factor v viii deficiency
تعداد نتایج: 1585920 فیلتر نتایج به سال:
1Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic Foundation, OH; 2A. Bianchi Bonomi Hemophilia and Thrombosis Centre, University of Milan and Department of Medicine and Medical Specialties, Luigi Villa Foundation, Istituti di ricovero e cura a carattere scientifico (IRCCS) Maggiore Hospital, Mangiagalli and Regina Elena Foundation, Milan, Italy; 3Life Sciences Institute,...
Mutations in LMAN1 (ERGIC-53) or MCFD2 cause combined deficiency of factor V and factor VIII (F5F8D). LMAN1 and MCFD2 form a protein complex that functions as a cargo receptor ferrying FV and FVIII from the endoplasmic reticulum to the Golgi. In this study, we analyzed 10 previously reported and 10 new F5F8D families. Mutations in the LMAN1 or MCFD2 genes accounted for 15 of these families, inc...
This is a bleeding disorder caused by deficiency of clotting factor VIII. The vast majority of cases are inherited but acquired forms do exist, largely in older patients, due to autoantibodies directed against factor VIII or haematological malignancy. [2] Severity of disease depends upon levels of remaining factor activity, with normal range expressed as 50-200% (refer to local laboratory for r...
Acquired factor VIII deficiency is very rare, often fatal. It is associated with pregnancy, autoimmune diseases, malignancy, and drugs, although no underlying cause is found in 50%. A 49-year-old male was referred with right shoulder bruising. The coagulation test showed a prolonged activated partial thromboplastin time. The factor VIII level was less than 1%, and the factor VIII inhibitor anti...
This is a bleeding disorder caused by deficiency of clotting factor VIII. The vast majority of cases are inherited but acquired forms do exist, largely in older patients, due to autoantibodies directed against factor VIII or haematological malignancy. [2] Severity of disease depends upon levels of remaining factor activity, with normal range expressed as 50-200% (refer to local laboratory for r...
Factor VIII is tightly noncovalently linked to von Willebrand factor (vWF) in plasma with a stoichiometry of 1:50, and vWF deficiency results in secondary factor VIII deficiency, with accelerated clearance of factor VIII from the circulation. We used a murine model of severe von Willebrand disease (vWF knockout mice) to study the effect of a recombinant vWF/pro-vWF preparation (rpvWF) on factor...
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