Type 1 collagen is the predominant collagen in cirrhotic livers. Each type 1 collagen molecule contains three subunits, two are identical (the alpha 1 chains) and the sequence of the third (alpha 2) is very similar. They are encoded at the non-synthenic loci, COL1A1 and COL1A2 and ...
Those that consented to the study were subjected to a standardized questionnaire and have their Alpha-1-Antitrypsin level and genotype determined by the AlphaKit.Eleven patients, between the ages of 14 - 17 with a mean age of 16, participated in the study. They were all tall and thin and ...
DNA polymorphisms of the alpha 1-antitryp- sin gene region in patients with chronic obstructive pulmonary disease. Eur J Clin Invest. 1990;20:1-7. [PMID: 1969347]Poller W, Meison C, Olek K. DNA polymorphisms of the α1-antitrypsin gene region in patients with chronic obstructive pulmonary ...
objective: to determine the levels of alpha-1 antitrypsin (aat) and the presence of s and z alleles in patients with chronic respiratory symptoms. methods: patients with chronic cough and dyspnea were submitted to clinical evaluation, pulmonary function tests, high-resolution computed tomography, nep...
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 (α1-AT) deficiency is mainly evaluated in the diagnostic process of chronic obstructive pulmonary disease (COPD). Around 95% of individuals with severe α1-AT deficiency carry the PI*ZZ genotype. Little is known about the epidemiology of the remaining deficient α1-AT varia...
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.
OBJECTIVE: In homozygotes with ZZ genotype alpha-1-antitrypsin (alpha1AT) deficiency, mutant alpha1ATZ protein (alpha1ATZ) accumulates in hepatocytes, rath... Teckman,H Jeffrey - 《J Pediatr Gastroenterol Nutr》 被引量: 160发表: 2004年 Liver transplantation for end-stage liver disease associate...
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...
VX-864 achieved rapid, consistent and statistically significant increases in mean functional alpha-1 antitrypsin (fAAT) levels of 2.2 to 2.3 micromolar from baseline in people with alpha-1 antitrypsin deficiency (AATD) with the PiZZ genotype, across three dose groups of VX-8...