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Alpha-1-Antitrypsin Deficiency

Familial emphysema
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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Alpha-1-Antitrypsin Deficiency" returned 50 free, full-text review articles. First few results:
Experimental and investigational drugs for the treatment of alpha-1 antitrypsin deficiency.
Last Updated: Oct 24, 2019

: Alpha-1 antitrypsin deficiency (AATD) is most often associated with chronic lung disease, early onset emphysema, and liver disease. The standard of care in lung disease due to AATD is alpha-1 antitrypsin augmentation but there are several new and emerging treatment options under ...

Alpha-1 Antitrypsin Deficiency and Accelerated Aging: A New Model for an Old Disease?
Last Updated: Mar 09, 2020

Alpha-1 antitrypsin (AAT) protects the lung by inhibiting neutrophil proteinases, but AAT has many other non-proteolytic functions that are anti-inflammatory, antiviral and homeostatic. Approximately 1 in 1600 to 1 in 5000 people have the homozygous Z mutation, which causes AAT misfolding, ...

Portuguese consensus document for the management of alpha-1-antitrypsin deficiency.
Last Updated: May 23, 2019

Alpha-1-antitrypsin deficiency (AATD) is a genetic autosomal codominant disorder caused by mutations in SERPINA1 gene. It is one of the most prevalent genetic disorders, although it remains underdiagnosed. Whereas at international level there are several areas of consensus on this ...

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Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Alpha-1-Antitrypsin Deficiency" returned 8 free, full-text editorial articles. First few results:
Lessons from the Past: Some Histories of Alpha-1 Antitrypsin Deficiency Before Its Discovery.
Last Updated: Mar 13, 2019

A1AT deficiency- a genetically inherited autosomal codominant disease with more than 120 identified alleles- was first identified by Laurell and Eriksson in 1963. The most common hereditary disorder in adults, A1AT causes an increased risk of developing pulmonary emphysema and liver ...

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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Alpha-1-Antitrypsin Deficiency" returned 266 free, full-text research articles. First few results:
Protein modeling to assess the pathogenicity of rare variants of SERPINA1 in patients suspected of having Alpha 1 Antitrypsin Deficiency.
Last Updated: Mar 09, 2020

Alpha 1 Antitrypsin (AAT) is a key serum proteinase inhibitor encoded by SERPINA1. Sequence variants of the gene can cause Alpha 1 Antitrypsin Deficiency (AATD), a condition associated with lung and liver disease. The majority of AATD cases are caused by the 'Z' and 'S' variants - ...

Decline in FEV and hospitalized exacerbations in individuals with severe alpha-1 antitrypsin deficiency.
Last Updated: Mar 09, 2020

The value of the forced expiratory volume in one second (FEV) is useful in the diagnosis and prognosis of chronic obstructive pulmonary disease (COPD). Previous studies on lung function in individuals with severe alpha-1 antitrypsin deficiency (AATD) have shown a variable annual ...

Liver Fibrosis and Metabolic Alterations in Adults With alpha-1-antitrypsin Deficiency Caused by the Pi*ZZ Mutation.
Last Updated: Sep 25, 2019

Alpha-1 antitrypsin deficiency (AATD) is among the most common genetic disorders. Severe AATD is caused by a homozygous mutation in the SERPINA1 gene that encodes the Glu342Lys substitution (called the Pi*Z mutation, Pi*ZZ genotype). Pi*ZZ carriers may develop lung and liver diseases. ...

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