Worldwide racial and ethnic distribution of alpha-1-antitrypsin deficiency: details of an analysis of published genetic epidemiological surveys.
Alpha-1-antitrypsin deficiency: smoking, decline in lung function and implications for therapeutic trials.
The electrophoretic alpha-1-globin pattern of serum alpha-1-antitrypsin deficiency.
American Thoracic Society/European Respiratory Society statement: standards for the diagnosis and management of individuals with alpha-1-antitrypsin
Liver injury in alpha-1-antitrypsin
deficiency: an aggregated protein induced mitochondrial injury.
is a glycoprotein primarily produced by hepatocytes, and to a lesser extent, immune system cells.
Koczulla's project, "Quantification of Alpha-1-Antitrypsin
in Exhaled Breath Condensate of Patients with Alpha-1-Antitrypsin
Deficiency, Smokers, and COPD Patients," intends to create a non-invasive tool to measure Alpha-1-Antitrypsin
levels, examine correlations with markers of pulmonary inflammation, and ultimately help guide disease therapy.
This first genetic test for Alpha-1-Antitrypsin (AAT) will detect genetic abnormalities associated with adult emphysema and progressive liver cirrhosis in children.
The test detects the two most common deficiency alleles of the alpha-1-antitrypsin gene which is crucial for the production of alpha-1-antitrypsin, a protein which helps maintain lung elasticity in adults and preserves liver function in children.
Alpha-1-antitrypsin (AAT) inhibits neutrophil elastases which break down elastin, a molecule which provides elasticity in the lungs.
Alpha-1 is a form of congenital emphysema that causes degradation of a patient's lung tissue due to inadequate production of alpha-1-antitrypsin
For many people with rare illnesses such as lysosomal storage disease, hemophilia, Guillain-Barre syndrome, and Alpha-1-antitrypsin
deficiency disease, specialty pharmaceuticals represent their standard of care, keeping symptoms stable and helping to reclaim quality of life.