نتایج جستجو برای: 1 antitrypsin deficiency
تعداد نتایج: 2853876 فیلتر نتایج به سال:
background currently, there is a remarkable lack of genetic epidemiological studies on alpha 1-antitrypsin (aat) deficiency in about half of the 193 countries of the world. this fact impedes the establishment of a true prevalence pattern of this deleterious hereditary disorder in extensive regions of human population. objectives the aim of the present study was to generate detailed maps of the ...
background alpha-1 antitrypsin deficiency is a genetic disease which affects both lung and liver. this disease is a recognized factor for chronic obstructive pulmonary disease (copd). however its importance as the cause of copd in a country such as iran is unclear. objectives this study was conducted to find out the role of α-1 antitrypsin deficiency as a cause of copd in iranian patients. mate...
context alpha-1-antitrypsin (a1at) is the most abundant liver-derived, highly polymorphic, glycoprotein in plasma. hereditary deficiency of alpha-1-antitrypsin in plasma (a1atd) is a consequence of accumulation of polymers of a1at mutants in endoplasmic reticulum of hepatocytes and other a1at-producing cells. one of the clinical manifestations of a1atd is liver disease in childhood and cirrhosi...
primary antibody deficiencies are the most frequent primary immunodeficiency disorders. bronchiectasis as a feature of these disorders may be developed due to some factors such α-1-antitrypsin deficiency. in order to determine the prevalence of two common α-1-antitrypsin deficiency alleles (pi*z and pi*s) in iranian patients with antibody deficiency, this study was performed. the prevalence of ...
53 persons suspected to alpha1-antitrypsin deficiency detection (aatd) were investigated for zz, mz, zs, ss, and ms alleles analysis by serum protein electrophoresis (spe), measurement of trypsin inhibiting capacity (tic), isoelectric focusing (ief), polymerase chain reaction (pcr), and ief/pcr-rflp techniques. the result clearly shows by using spe and tic techniques only 35.85 % and 50.08% of ...
BACKGROUND Alpha-1 antitrypsin deficiency is a common genetic condition that predisposes to emphysema and liver disease. Alpha-1 antitrypsin deficiency is under-recognized, so affected individuals often experience long delays in diagnosis and visits to multiple physicians before correct diagnosis. Reasoning that inadequate knowledge about alpha-1 antitrypsin deficiency could contribute to this ...
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