نتایج جستجو برای: abetalipoproteinemia
تعداد نتایج: 433 فیلتر نتایج به سال:
Human plasma contains an inhibitor of tissue factor-initiated coagulation known as the lipoprotein-associated coagulation inhibitor (LACI) or also known as the extrinsic pathway inhibitor (EPI). A competitive fluorescent immunoassay was developed to measure the plasma concentration of LACI in samples from normal individuals and patients with a variety of diseases. The LACI concentration in an a...
BACKGROUND Abetalipoproteinemia (ABL; OMIM 200100) is a rare monogenic disorder of lipid metabolism characterized by reduced plasma levels of total cholesterol (TC), low density lipoprotein-cholesterol (LDL-C) and almost complete absence of apolipoprotein B (apoB). ABL results from genetic deficiency in microsomal triglyceride transfer protein (MTP; OMIM 157147). In the present study we investi...
Abetalipoproteinemia (ABL, OMIM 200100) is a rare, autosomal recessive disorder, characterized by fat malabsorption, acanthocytosis and hypocholesterolemia in infancy. Later in life, deficiency of fat-soluble vitamins is associated with development of atypical retinitis pigmentosa, coagulopathy, posterior column neuropathy and myopathy. ABL results from mutations in the gene encoding the large ...
Orbitomeatal basal line-anthropological basal line (OML-ABL), and the acanthiomeatal line (AML)-ABL crossing angles were measured using profile pictures. There were 219 volunteers in total: 42 people four years old, 44 people nine years old, 45 people 14 years old, 43 people 19 years old, and 45 people 40 years or older (48±7.4 years). The average OML-ABL crossing angle was 14.3 degrees in the ...
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