Alpha1-antitrypsin deficiency (AATD) was first described by Laurell and Eriksson in 1963. Laurell noted the absence of the band of alpha1- protein in 5 of 1500 serum protein electrophoreses (SPEP) submitted to his laboratory in Sweden.
Fanos JH, Strange C (2004) “The lion, the witch and the wardrobe”: Impact on sibs of individuals with AAT deficiency. American Journal of Medical Genetics Part A 130:251–257Fanos JH, Strange C: "The lion, the witch and the wardrobe": impact on sibs of indi‐ viduals with AAT ...
Alpha-1抗胰蛋白酶缺乏症(AAT)的英文名字是Alpha-1 antitrypsin deficiency(AAT)。基因解码表明:Alpha-1抗胰蛋白酶缺乏症(AAT)是一种遗传性疾病,主要影响肺部和肝脏。该疾病由于Alpha-1抗胰蛋白酶(AAT)基因突变导致AAT蛋白质的产量减少或功能异常。分子检测是一种用
1.Gettins PG (December 2002). Serpin structure, mechanism, and function. ChemicalReviews. 102 (12):751–804. 2.DeMeo DL, Silverman EK (March 2004). Alpha1-antitrypsindeficiency. 2: genetic aspects of alpha(1)-antitrypsin deficiency: phenotypesand genetic modifiers of emphysema risk. Thorax. ...
DeMeo DL, Silverman EK (March 2004). Alpha1-antitrypsindeficiency. 2: genetic aspects of alpha(1)-antitrypsin deficiency: phenotypesand genetic modifiers of emphysema risk. Thorax. 59 (3): 259–264. Townsend, S.A; Edgar, R.G; Ellis, P....
Benefits of the rAAV in the treatment; Study conducted by injecting mice with the virus.doi:10.1038/6103Margret EinarsonNature Biotechnology
{BLR 2715} AAT Deficiency - Abacavir- Adefovir - Adhesions - AIDS - Amprenavir - Angiogenesis - Anticancer Drugs - Axogen - Botulinum Toxin - Brain Cancer - CEL-SCI - Cell Genesys - Cervical Dystonia - Ciba Vision - CMV - Colorectal Cancer - Coulter - Cytokine Networks, Inc. - DHEA - ...
Application of DNA Analysis Tecniques From Dried Blood Spots to Screening for Alpha 1 Antitrypsin (AAT) Deficiency 92European Society for Paediatric Research Abstractsdoi:10.1203/00006450-199609000-00115DDonzaz-amuoDivisionPediatric Research
α1-抗胰蛋白酶缺乏症(alpha-1antitrypsin deficiency,AATD)是儿童和成人最常见的遗传代谢性肝病,在欧美发病率较高,亚洲发病率较低。 α-1抗胰蛋白酶(AAT)的基因位于染色体14q31-32.3,其所编码产生的AAT属于丝氨酸蛋白酶抑制剂的家族成员,是机体最重要的蛋白酶抑制剂。AAT主要由肝细胞合成并分泌入血,少数由单核...
Deficiency of O-linked-glycosylation regulates activation of T cells and aggravates Concanavalin A-induced liver injury. Authors: Hao, Xiaohua and Gao, Meixin and He, Lingling and Ye, Xiaohui and Yang, Junru and Zhang, Fuyang and Liu, Ran and Wei, Hongshan ...