In this review, we summarise and update current knowledge on alpha-1 antitrypsin deficiency in order to identify and discuss areas of controversy and formulate questions that need further research. 1) AATD is a highly underdiagnosed condition. Over 120,000 European individuals are estimated to have...
Table 5. Key research questions for individuals with alpha-1 antitrypsin deficiency. Pi∗MZ Is the modifier role liver disease aetiology-specific?Is the contribution of AATD-related liver disease significant enough to warrant specific therapeutic intervention? Pi∗ZZ Are mechanisms underlying paediatric...
佳学基因的Alpha-1抗胰蛋白酶缺乏症(Alpha-1 antitrypsin deficiency)致病基因鉴定基因解码项目通过全外显子测序获得基因序列是如何增加检出率和正确性的? 佳学基因的Alpha-1抗胰蛋白酶缺乏症基因解码项目通过全外显子测序可以增加检出率和正确性,具体原因如下: 1. 检出率提高:全外显子测序可以同时检测所有外显子区...
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...
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 ...
doi:10.1080/21548331.1971.11706032HarveyUniversityL.UniversitySharpUniversityInformaworldHospital PracticeSharp H. L. Alpha-1-antitrypsin deficiency. Hosp Pract 1971 ; 6: 83 [Taylor & Francis Online]
- 《Respiratory Research》 被引量: 98发表: 2008年 Practical genetics: alpha-1-antitrypsin deficiency and the serpinopathies Alpha-1-antitrypsin (a1-antitrypsin) is the archetypal member of the serine proteinase inhibitor or serpin superfamily. The most common severe deficiency v... DC Crowther,D...
Severe alpha‐1‐antitrypsin deficiency increases the risk of venous thromboembolism Background Severe alpha-1-antitrypsin deficiency (AATD), phenotype PiZZ, is associated with increased risk of liver disease and chronic obstructive pulmona... N Basil,M Ekstroem,E Piitulainen,... - 《Research & ...
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 (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...