نتایج جستجو برای: abetalipoproteinemia
تعداد نتایج: 433 فیلتر نتایج به سال:
KENNETH P. ABL
BACKGROUND The use of microsomal triglyceride transfer protein (MTP) inhibitors is limited to severe hyperlipidemias because of associated hepatosteatosis and gastrointestinal adverse effects. Comprehensive knowledge about the structure-function of MTP might help design new molecules that avoid steatosis. Characterization of mutations in MTP causing abetalipoproteinemia has revealed that the ce...
Total body turnover of cholesterol was studied in two patients with abetalipoproteinemia, a 32-year-old man and a 31-year-old woman. The patients received [14C]cholesterol intravenously, and the resulting specific activity-time curves (for 40 and 30 weeks, respectively) were fitted with a three-pool model. Parameters were compared with those from studies of cholesterol turnover in 82 normal and...
Abetalipoproteinemi otozomal resesif geçişli, hayatın ilk yıllarında büyüme geriliği ve ishal ile seyreden lipoprotein metabolizma bozukluğuna bağlı bir hastalıktır.
 Büyüme aralıklı yakınması 13 yaşında, geç tanı alan abetalipoproteinemili olgu nadir görülmesi nedeniyle sunulmuştur.
Abetalipoproteinemia (ABL) is a very rare autosomal recessive disorder caused by mutations in the microsomal triglyceride transfer protein gene (MTTP). ABL is characterized by lack of lipids and apolipoprotein B (apoB) in plasma, fat malabsorption and various clinical manifestations. We describe a 12-month-old infant boy, born from consanguineous parents and presented with diarrhea, steatorrhea...
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