Systemic diseases of liver origin (SDLO) are complex diseases in multiple organ systems,
such as cardiovascular, musculoskeletal, endocrine, renal, respiratory, and sensory organ …

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

Abstract Background According to the International Rare Diseases Research Consortium
(IRDiRC), a known rare disease (RD) should be diagnosable within a year. This study …

Introduction Currently, strategies for improving alpha1 antitrypsin deficiency (AATD)
diagnosis are needed. Here we report the performance of a multinational multiplex-based …

Background Alpha-1 antitrypsin deficiency is an under-recognized genetic cause of chronic
lung and liver disease; it remains unclear what the testing frequency and disparities are for …

Alpha-1 antitrypsin deficiency (AATD) is a genetic disorder that manifests as lung and/or
liver disease. Because symptoms of AATD overlap with those of common pulmonary and …

Background: Alpha-1 antitrypsin deficiency (AATD) is the most common genetic risk factor
for early-onset emphysema. However, AATD continues to be underrecognized and …

As patient access to laboratory testing outside the clinic grows, health care providers can
expect to confront increasing questions about the utility and interpretation of consumer …

Background Alpha‐1 antitrypsin deficiency (AATD) is caused by mutations in SERPINA1,
which encodes alpha‐1 antitrypsin, a protease inhibitor (Pi). Individuals with AATD and the …

Abstract Alpha-1 antitrypsin deficiency (AATD) is an autosomal codominant genetic cause of
chronic obstructive pulmonary disease (COPD) with over 100 allelic variants described. The …