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Protein S deficiency
- ... 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;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. ...
- ... BT. Clinical and biochemical spectrum of D-bifunctional protein deficiency. Ann Neurol. 2006 Jan;59(1):92-104. doi: 10.1002/ana.20702. Citation on PubMed Ferdinandusse S, Ylianttila MS, Gloerich J, Koski MK, Oostheim W, ...
- ... and HADHB genes in patients with mitochondrial trifunctional protein deficiency. Int J Mol Med. 2007 Jan;19(1):81-7. Citation on PubMed Das AM, Illsinger S, Lucke T, Hartmann H, Ruiter JP, Steuerwald U, ...
- ... the other signs and symptoms of mitochondrial trifunctional protein deficiency. More About This Health Condition In a small number of cases, HADHA mutations appear to increase a woman's risk of developing two serious liver disorders during ...
- ... J, Kiyosawa M, Seko Y, Yokota T, Harino S, Suzuki J. Clinicopathological report of retinitis pigmentosa with vitamin E deficiency caused by mutation of the alpha-tocopherol transfer protein gene. Jpn J Ophthalmol. 2001 Nov-Dec;45( ...