hereditary factor VII deficiencyprothrombin timeStypven timeFactor X (FX) deficiency is a rare, recessively inherited bleeding disorder representing 10% of all rare bleeding diseases and affecting 1 in every 1,000,000 people. Its clinical presentation places FX deficiency among the most severe of ...
Hereditary factor VII deficiency: heterogeneity defined by combined functional and immunochemical analysis Twenty-six patients with hereditary factor VII deficiency (VII:C less than 10%) were evaluated using a panel of three thromboplastins of varying species an... D Triplett - 《Blood》 被引量: ...
In the second type, no factor VII antibody neutralizing material is present. Evidence is also provided for the existence of two types of acquired factor VII deficiency . Apparently, low factor VII activity in liver disease results from decreased synthesis of factor VII protein. In contrast, ...
E., and Pollara, B.: Impairment of adenosine deaminase activity in combined immunological deficiency disease. (Submitted for publication). 20. Meuwissen, H. J., and Pollara, B.: Adenosine deaminase deficiency: The first inborn error of metabolism noted in immunodeficiency disease. J. Pediat.,...
A 66-year-old man with homozygous deficiency of factor VII (less activity than 4 percent of normal) had a minimal hemorrhagic tendency and severe coronary atherosclerosis, and underwent aortocoronary saphenous vein bypass surgery. Although plasma factor VII coagulant activity and cross-reacting material...
The brother of the propositus, the mother, and other members of her family showed about 50% factor VII activity and CRM and were considered to be heterozygotes for true factor VII deficiency. Similar findings were also present in the father and in the brother of the affected cousin. The ...
HARADA'SDISEASE PEMPHIGUSFOLIACEOUS DEAFNESS HIPDYSPLASIA ELBOWDYSPLASIA HYPOANDHYPERTHYROID AlaskanMalamute HIPDYSPLASIA RECESSIVEHEMERLOPIA ANEMIAWITHCHONDRODYSPLASIA CHONDRODYSPLASIA FACTORVIIDEFICIENCY RENALCORTICALHYPOPLASIA HEMOPHILIAA,FACTORVIIIORAHFDEFICIENCY CORNEALDYSTROPHY HEREDITARYPOLYNEUROPATHY DWARFISM AmericanFo...
Description: Fish-eye disease is a partial LCAT deficiency causing corneal opacities and low HDL. There is no anemia or kidney involvement. It is a rare disorder in which corneal opacities give the appearance of corneas of boiled fish and manifest in adolescence. This disorder is due to a ...
Hereditary angioedema (HAE) is a rare disease affecting approximately 1 in 50,000 people and presents with recurrent cutaneous and mucosal membrane swelling. The result is recurrent angioedema, intermittent abdominal obstruction and pain, and airway swel
Primary cells, however, constitute a finite resource, and in the context of a rare disease, the limited availability of primary cell lines has impeded large-scale pharmaceutical library screening aimed at identifying compounds that would clinically benefit a sufficiently large fraction of EB patients....