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Results 1 - 10 of 360 for Protein S deficiency
  1. ... 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 ...
  2. ... 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( ...
  3. ... of recurrent venous thromboembolism in patients with hereditary deficiencies of protein S, protein C or antithrombin. Thromb Haemost. 2009 Jan; ...
  4. ... 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 ...
  5. ... symptoms.The mutations that cause corticosteroid-binding globulin deficiency often decrease the CBG protein's ability to bind to cortisol; some severe mutations ...
  6. ... Zhang C, Xu W, Zoetekouw L, Hennekam RC. ss-ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patients. Biochim Biophys Acta. ...
  7. ... 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, ...
  8. ... 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, ...
  9. ... 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 ...
  10. ... 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( ...
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