Methods: α1-antitrypsin levels were determined prospectively in 94 patients with Peyronie’s disease and compared to healthy controls. Analysis of the α1-antitrypsin gene (S, Z variants; single nucleotid polymorphisms [SNPs]: T-395A, M2, M3, G6118A) was done in 141 Peyronie’s patients ...
Pleural Disease/Pneumothorax PostersSESSION TYPE: Poster PresentationsPRESENTED ON: Saturday, March 22, 2014 at 01:15 PM - 02:15 PMPURPOSE: A recent series of case reports in children links Primary Spontaneous Pneumothorax (PSP) to alpha-1-antitrypsin (AAT) deficiency. However, epidemiological ...
起源,血清铜蓝蛋白和α- 1 -抗胰蛋白酶水平 翻译结果2复制译文编辑译文朗读译文返回顶部 起源、 血清铜蓝蛋白和阿尔法-1-antitrypsin 级别 翻译结果3复制译文编辑译文朗读译文返回顶部 起源、 血清铜蓝蛋白和阿尔法-1-antitrypsin 级别 翻译结果4复制译文编辑译文朗读译文返回顶部 ...
Alpha-1 antitrypsin(抗胰蛋白酶) deficiency is a genetic disorder(遗传病) in which a protein called alpha-1 antitrypsin is defective or absent, and it causes lung and liver disease. α抗胰蛋白酶缺乏症是一种遗传性疾病,患者体内的一种叫做α抗胰蛋白酶的蛋白质出现了问题或者含量减少了,最终导致肺...
If both copies of the gene were mutant Z copies, then typically there’sonly 15 - 20% ofnormal levels, which results in alpha-1 antitrypsin deficiency. 如果两个突变的话,就... Since you need both mutant copies for the disease, this makes alpha-1antitrypsin deficiencya recessive disease...
Alpha-1 antitrypsin deficiency (AATD) is a hereditary condition associated with a higher risk of developing lung disease, in the form of emphysema, and liver disorders, depending on the allelic variants expressed [1]. Currently, the measurement of alpha-1 antitrypsin levels is recommended in all...
Alpha-1 antitrypsin deficiency (AATD, OMIM #613490) is a rare metabolic disorder affecting lungs and liver. The purpose of this study is to assess the impact of the US orphan drug act on AATD by providing a quantitative clinical-regulatory insight into the status of FDA orphan drug approval...
Alpha-1-antitrypsin deficiency (AATD) is a rare genetic disorder associated with the development of liver and lung disease. AAT is a 52-kD glycoprotein, produced mainly by hepatocytes and secreted into the blood. Agglomeration of the AAT-protein in hepatocytes can result in liver disease. Exposur...
Das´i, "Long-term therapeutic levels of human alpha-1 antitrypsin in plasma after hydrodynamic injection of nonviral DNA," Gene Therapy, vol. 10, no. 19, pp. 1672-1679, 2003.Alino, S. F.; Crespo, A. & Dasi, F. (2003).Long-term therapeutic levels of human alpha-1 antitrypsin...
Alpha-1-antitrypsin (AAT) levels were measured in patients with three types of dysgammaglobulinemia: monoclonal gammopathy, polyclonal hypergammaglobulinemia and hypogammaglobulinemia. A fourth group comprised of subjects with normogammaglobulinemia served as a control. The frequency of hypoalpha-1-...