Alpha-1-antitrypsin (a1AT) Deficiency is a metabolic genetic disease in which individuals homozygous for the mutant Z a1AT gene are at risk for liver and lung disease. Homozygotes, called PIZZ in World Health Organization nomenclature, occur in approximately 1 in 2000 births in North American ...
Alpha-1-antitrypsin (α1AT) is a glycoprotein synthesized by the liver (32, 18, 31, 1) which functions as an enzyme inhibitor. In vitro synthesis and release of α1AT has been demonstrated with the technique of short term liver cultures in the presence of radiolabeled amino acids (1). ...
Alpha-1 antitrypsin(抗胰蛋白酶)deficiency is a genetic disorder(遗传病)in which a protein called alpha-1antitrypsin 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,最终导致肺和肝脏...
Alpha 1-antitrypsin deficiency is an inherited metabolic disorder that predisposes the affected individual to chronic pulmonary disease, in addition to chronic liver disease, cirrhosis, and hepatocellular carcinoma. Just over one-third of genetically susceptible adult patients with the most severe phenotype...
英文: Metabolic diseases such as Wilson\'s disease, hemochromatosis, and alpha 1 - antitrypsin deficiency can lead to liver damage.中文: 代谢性疾病,如威尔逊氏病,血色沉着,α-1型胰岛素缺乏症均可导致肝损伤。英文: Alpha 1-antitrypsin Matrix Attachment Region Enhances RNA PolymeraseⅡ-dependent ...
Alpha-1抗胰蛋白酶缺乏症的英文名字是Alpha-1 antitrypsin deficiency。基因解码表明:Alpha-1抗胰蛋白酶缺乏症是一种遗传性疾病,与基因突变密切相关。Alpha-1抗胰蛋白酶是一种由SERPINA1基因编码的蛋白质,它在肝脏中合成并通过血液循环分布到全身。该蛋白质的主要功能是
Alpha-1 antitrypsin deficiency is the commonest genetic condition leading to liver transplantation in childhood. It remains unclear why only a minority of individuals carrying homozygous PiZ phenotype has liver disease, but also why of those only about a quarter develops end stage liver disease, requ...
Alpha-1-antitrypsinProteaseAntiproteaseLiver diseaseChronic obstructive pulmonary disease (COPDTwo disparate disease states—an adult form of emphysema and a childhood form of liver cirrhosis—have been linked to an inherited absence of this antienzyme. In their severe, homozygous forms, both conditions...
Alpha-1-antitrypsin deficiency is a common autosomal recessive disorder associated with premature development of emphysema, liver cirrhosis and hepatocellular carcinoma. This article reviews the existing literature on alpha-1-antitrypsin... JV Sch?Nfeld,N, Breuer - 《Deutsche Medizinische Wochenschrift》 ...
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...