Abstract Alpha-1-Antitrypsin deficiency (AATD), caused by SERPINA1 mutations, is one of
the most prevalent Mendelian disorders among individuals of European descend. However …

Augmentation therapy with intravenous alpha-1 antitrypsin is the only specific treatment for
alpha-1 antitrypsin deficiency (AATD)-associated emphysema. This treatment has been …

Entry of SARS-CoV-2 is facilitated by endogenous and exogenous proteases. These
proteases proteolytically activate the SARS-CoV-2 spike glycoprotein and are key …

Background and objective Alpha-1 antitrypsin deficiency (AATD) is an underdiagnosed
hereditary condition that promotes the development of lung and liver diseases, and the most …

Abstract Alpha1-antitrypsin deficiency (AATD) is a rare autosomal recessive disease
associated with the homozygous Z variant of the SERPINA1 gene. Clinical expression of …

Introduction. Alpha-1 antitrypsin deficiency (AATD) is a genetic condition associated with
several respiratory diseases in patients with severe protein deficiency. AATD is often late …

The well-recognized individual heterogeneity within COPD patients has led to a growing
interest in greater personalization in the approach of these patients. Thus, the treatable traits …

Clinical heterogeneity has been demonstrated in alpha-1 antitrypsin deficiency (AATD),
such that clinical suspicion plays an important role in its diagnosis. The PiZZ genotype is the …

Ever since the first studies, restoring proteinase imbalance in the lung has traditionally been
considered as the main goal of alpha1 antitrypsin (AAT) replacement therapy. This strategy …

ABSTRACT Alpha-1 antitrypsin deficiency (AATD) is a rare genetic disorder caused by a
mutation in the SERPINA1 gene, which encodes the protease inhibitor alpha-1 antitrypsin …