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Results 1 - 10 of 177 for Protein S deficiency disease
  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. Abetalipoproteinemia 
    ... disease Congenital betalipoprotein deficiency syndrome Microsomal triglyceride transfer protein deficiency disease MTP deficiency National Organization for Rare Disorders (NORD) ...
    https://medlineplus.gov/genetics/condition/abetalipoproteinemia - Genetics
  3. Surfactant dysfunction 
    ... on PubMed Hamvas A. Inherited surfactant protein-B deficiency and surfactant protein-C associated disease: clinical features and evaluation. Semin Perinatol. 2006 Dec; ...
    https://medlineplus.gov/genetics/condition/surfactant-dysfunction - Genetics
  4. Ataxia with vitamin E deficiency 
    ... consequences of mutations to the alpha-tocopherol transfer protein associated with the neurodegenerative disease ataxia with vitamin E deficiency. Biochemistry. 2013 Jun 18;52(24):4264-73. ...
    https://medlineplus.gov/.../ataxia-with-vitamin-e-deficiency - Genetics
  5. Factor X deficiency 
    ... caused by other disorders such as severe liver disease or systemic amyloidosis, a condition involving the accumulation of abnormal proteins called amyloids. Acquired factor X deficiency can also be caused by certain drugs such ...
    https://medlineplus.gov/genetics/condition/factor-x-deficiency - Genetics
  6. Metachromatic leukodystrophy 
    ... diffuse, metachromatic form Cerebroside sulphatase deficiency disease Greenfield disease Metachromatic leukoencephalopathy MLD Sulfatide ... National Organization for Rare Disorders (NORD) ...
    https://medlineplus.gov/.../condition/metachromatic-leukodystrophy - Genetics
  7. X-linked lymphoproliferative disease 
    ... PubMed Schuster V, Kreth HW. X-linked lymphoproliferative disease is caused by deficiency of a novel SH2 domain-containing signal transduction adaptor protein. Immunol Rev. 2000 Dec;178:21-8. doi: ...
    https://medlineplus.gov/.../x-linked-lymphoproliferative-disease - Genetics
  8. Factor XI deficiency 
    ... immune system malfunctions and attacks the factor XI protein. Because factor XI is made primarily by cells in the liver, acquired factor XI deficiency can also occur as the result of severe liver disease or receiving a transplanted liver from an affected ...
    https://medlineplus.gov/genetics/condition/factor-xi-deficiency - Genetics
  9. HSD10 disease 
    ... use.The HSD17B10 gene mutations that cause HSD10 disease reduce the amount of HSD10 protein in cells, impair their structure or function, or both, which leads to a deficiency of the functional complex in which it plays ...
    https://medlineplus.gov/genetics/condition/hsd10-disease - Genetics
  10. GLUT1 deficiency syndrome 
    ... signs and symptoms of the condition. De Vivo disease Encephalopathy due to GLUT1 deficiency G1D Glucose transport defect, blood-brain barrier Glucose transporter protein syndrome Glucose transporter type 1 deficiency syndrome Glut1 ...
    https://medlineplus.gov/genetics/condition/glut1-deficiency-syndrome - Genetics
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