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Results 1 - 10 of 284 for Protein S deficiency
  1. 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 ...
    https://medlineplus.gov/genetics/condition/protein-s-deficiency - Genetics
  2. Protein C deficiency 
    ... 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 ...
    https://medlineplus.gov/genetics/condition/protein-c-deficiency - Genetics
  3. D-bifunctional protein deficiency 
    ... 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, ...
    https://medlineplus.gov/.../d-bifunctional-protein-deficiency - Genetics
  4. Hereditary antithrombin deficiency 
    ... 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( ...
    https://medlineplus.gov/.../hereditary-antithrombin-deficiency - Genetics
  5. Beta-ureidopropionase deficiency 
    ... Zhang C, Xu W, Zoetekouw L, Hennekam RC. ss-ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patients. Biochim Biophys Acta. ...
    https://medlineplus.gov/.../beta-ureidopropionase-deficiency - Genetics
  6. X-linked creatine deficiency 
    ... energy properly.SLC6A8 gene variants impair the transporter protein's ability to bring creatine into cells, resulting in a shortage (deficiency) of creatine. The effects of creatine deficiency are ...
    https://medlineplus.gov/.../condition/x-linked-creatine-deficiency - Genetics
  7. Surfactant dysfunction 
    ... of surfactant dysfunction sometimes referred to as ABCA3 deficiency, lead to reduction or absence of the protein's function. Without ABCA3 protein function, the transport of ...
    https://medlineplus.gov/genetics/condition/surfactant-dysfunction - Genetics
  8. Ataxia with vitamin E deficiency 
    ... of heritable mutations in the alpha-tocopherol transfer protein. Biochemistry. 2006 Jul 11;45(27):8236-42. doi: 10.1021/bi060522c. Citation on PubMed
    https://medlineplus.gov/.../ataxia-with-vitamin-e-deficiency - Genetics
  9. Complement component 2 deficiency 
    ... complement component 2 protein. A lack of this protein impairs activation of the complement pathway. As a result, the complement system's ability to fight infections is diminished. It is unclear how complement component 2 deficiency leads to an increase in autoimmune disorders. Researchers ...
    https://medlineplus.gov/.../complement-component-2-deficiency - Genetics
  10. Factor XIII deficiency 
    ... 5 percent of normal. A loss of this protein's activity weakens blood clots, preventing the clots from stopping blood loss effectively.The acquired form of factor XIII deficiency results when the production of factor XIII is ...
    https://medlineplus.gov/genetics/condition/factor-xiii-deficiency - Genetics
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