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Protein S deficiency
- Protein S deficiency is a disorder that increases the risk of developing blood clots. People with protein S deficiency are at risk of developing a type of clot ...
- ... the PROS1 gene have been found to cause protein S deficiency. People with this condition have an increased risk ... impair the function of protein S. Individuals with protein S deficiency may not have enough functional protein S to ...
- ... of recurrent venous thromboembolism in patients with hereditary deficiencies of protein S, protein C or antithrombin. Thromb Haemost. 2009 Jan; ... of screening asymptomatic relatives of patients with hereditary deficiencies of protein S, protein C or antithrombin. J Thromb Haemost. 2010 ...
- ... for Rare Disorders (NORD) ClinicalTrials.gov D-BIFUNCTIONAL PROTEIN DEFICIENCY PubMed Ferdinandusse S, Denis S, Mooyer PA, Dekker C, Duran M, ... BT. Clinical and biochemical spectrum of D-bifunctional protein deficiency. Ann ... Ferdinandusse S, Ylianttila MS, Gloerich J, Koski MK, Oostheim W, ...
- ... of recurrent venous thromboembolism in patients with hereditary deficiencies of protein S, protein C or antithrombin. Thromb Haemost. 2009 Jan;101(1):93-9. Citation on PubMed Maclean PS, Tait RC. Hereditary and ... deficiency: epidemiology, pathogenesis and treatment options. Drugs. 2007;67( ...
- ... of recurrent venous thromboembolism in patients with hereditary deficiencies of protein S, protein C or antithrombin. Thromb Haemost. 2009 Jan;101(1):93-9. Citation on PubMed Maclean PS, Tait RC. Hereditary and ... deficiency: epidemiology, pathogenesis and treatment options. Drugs. 2007;67( ...
- ... of recurrent venous thromboembolism in patients with hereditary deficiencies of protein S, protein C or antithrombin. Thromb Haemost. 2009 Jan; ...
- ... in alpha-1 antitrypsin, which can alter the protein's structure. The most common variant that causes alpha-1 antitrypsin deficiency replaces the amino acid glutamic acid with the ...
- ... symptoms.The mutations that cause corticosteroid-binding globulin deficiency often decrease the CBG protein's ability to bind to cortisol; some severe mutations ...
- ... Zhang C, Xu W, Zoetekouw L, Hennekam RC. ss-ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patients. Biochim Biophys Acta. ...