Background Increasing the activity of defective cystic fibrosis transmembrane conductance
regulator (CFTR) protein is a potential treatment for cystic fibrosis. Methods We conducted a …

Background: Severe α 1 -antitrypsin (AAT) deficiency is an autosomal recessive genetic
condition associated with an increased but variable risk for chronic obstructive pulmonary …

Severe α 1 -antitrypsin (AAT) deficiency is a proven genetic risk factor for chronic obstructive
pulmonary disease (COPD), especially in individuals who smoke. There is marked …

Despite recent improvements, α 1 -antitrypsin deficiency (AATD) remains a rarely diagnosed
and treated condition. To assess the variability of AATD diagnosis/treatment in Europe, and …

α 1 -Antitrypsin deficiency (AATD), characterised by reduced levels or functionality of α 1 -antitrypsin
(AAT), is a significantly underdiagnosed genetic condition that predisposes …

Alpha-1 antitrypsin (AAT) deficiency and tobacco smoking are confirmed risk factors for Chronic
Obstructive Pulmonary Disease. We hypothesized that variable DNA methylation would …

Despite comprehensive guidelines established by the European Global Initiative for Asthma
and the US National Asthma Education and Prevention Program on the diagnosis and …

One hundred twenty-eight healthy volunteers (81 women, 47 men) older than 55 yr of age
were studied with an incremental progressive cycle ergometer test to a symptom-limited, …

Background Elexacaftor–tezacaftor–ivacaftor has been shown to be safe and efficacious in
people with cystic fibrosis and at least one F508del allele. Our aim was to identify a novel …

Rationale: Patient registries have the potential to collect and analyze high-quality
postauthorization data on new medicines. Objectives: We used cystic fibrosis (CF) registry data to …