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Alpha-1 antitrypsin deficiency.
Dasí F. Dasí F. Med Clin (Barc). 2024 Apr 12;162(7):336-342. doi: 10.1016/j.medcli.2023.10.014. Epub 2023 Nov 22. Med Clin (Barc). 2024. PMID: 37993348 Free article. Review. English, Spanish.
Alpha-1 antitrypsin deficiency (AATD) is a rare hereditary condition caused by decreased plasma and tissue levels of alpha-1 antitrypsin (AAT) that can lead to serious lung and liver disease in children and adults. ...Currently, the only approved pharmacological therapy is …
Alpha-1 antitrypsin deficiency (AATD) is a rare hereditary condition caused by decreased plasma and tissue levels of alpha-1 antitryp …
Alpha-1 antitrypsin deficiency: outstanding questions and future directions.
Torres-Durán M, Lopez-Campos JL, Barrecheguren M, Miravitlles M, Martinez-Delgado B, Castillo S, Escribano A, Baloira A, Navarro-Garcia MM, Pellicer D, Bañuls L, Magallón M, Casas F, Dasí F. Torres-Durán M, et al. Orphanet J Rare Dis. 2018 Jul 11;13(1):114. doi: 10.1186/s13023-018-0856-9. Orphanet J Rare Dis. 2018. PMID: 29996870 Free PMC article. Review.
BACKGROUND: Alpha-1 antitrypsin deficiency (AATD) is a rare hereditary condition that leads to decreased circulating alpha-1 antitrypsin (AAT) levels, significantly increasing the risk of serious lung and/or liver disease in children and adults, in which some aspects remai …
BACKGROUND: Alpha-1 antitrypsin deficiency (AATD) is a rare hereditary condition that leads to decreased circulating alpha-1 antitryp …
European Respiratory Society statement: diagnosis and treatment of pulmonary disease in alpha(1)-antitrypsin deficiency.
Miravitlles M, Dirksen A, Ferrarotti I, Koblizek V, Lange P, Mahadeva R, McElvaney NG, Parr D, Piitulainen E, Roche N, Stolk J, Thabut G, Turner A, Vogelmeier C, Stockley RA. Miravitlles M, et al. Eur Respir J. 2017 Nov 30;50(5):1700610. doi: 10.1183/13993003.00610-2017. Print 2017 Nov. Eur Respir J. 2017. PMID: 29191952 Free article. Review.
alpha(1)-antitrypsin deficiency (AATD) is the most common hereditary disorder in adults. It is associated with an increased risk of developing pulmonary emphysema and liver disease. The pulmonary emphysema in AATD is strongly linked to smoking, …
alpha(1)-antitrypsin deficiency (AATD) is the most common hereditary disorder in adults. It is associated with an increased risk of d …
[Alpha-1-antitrypsin deficiency].
de Vos JD, Hillberg O, Perch M, Jensen JU, Wilcke JT, Løkke A. de Vos JD, et al. Ugeskr Laeger. 2021 Jul 26;183(30):V02210150. Ugeskr Laeger. 2021. PMID: 34356027 Free article. Review. Danish.
The subject of this review is alpha-1-antitrypsin deficiency (A1AD), which is a rare hereditary disease with great impact in adults, especially smokers, quality of life and longevity. ...The primary care physician should refer patients younger than 50-years-old with COPD o …
The subject of this review is alpha-1-antitrypsin deficiency (A1AD), which is a rare hereditary disease with great impact in adults, …
α1-Antitrypsin deficiency and chronic respiratory disorders.
Cazzola M, Stolz D, Rogliani P, Matera MG. Cazzola M, et al. Eur Respir Rev. 2020 Feb 12;29(155):190073. doi: 10.1183/16000617.0073-2019. Print 2020 Mar 31. Eur Respir Rev. 2020. PMID: 32051168 Free PMC article. Review.
alpha(1)-antitrypsin deficiency (AATD) is a hereditary disorder associated with a risk of developing liver disease and pulmonary emphysema, and other chronic respiratory disorders (mainly asthma and bronchiectasis); Z variant is the commonest deficient varian …
alpha(1)-antitrypsin deficiency (AATD) is a hereditary disorder associated with a risk of developing liver disease and pulmonary
Alpha-1 antitrypsin augmentation therapy.
Wewers MD, Crystal RG. Wewers MD, et al. COPD. 2013 Mar;10 Suppl 1:64-7. doi: 10.3109/15412555.2013.764402. COPD. 2013. PMID: 23527997 Free article. Review.
The therapy of alpha-1 antitrypsin deficiency (AATD) is an example of a medical triumph over a common hereditary disease. Based on the understanding of the pathogens of the disease as a deficiency in liver production of alpha-1 antitrypsin (AAT) resulting from inherited ge …
The therapy of alpha-1 antitrypsin deficiency (AATD) is an example of a medical triumph over a common hereditary disease. Based on th …
Alpha-1-antitrypsin deficiency: increasing awareness and improving diagnosis.
Greulich T, Vogelmeier CF. Greulich T, et al. Ther Adv Respir Dis. 2016 Feb;10(1):72-84. doi: 10.1177/1753465815602162. Epub 2015 Sep 4. Ther Adv Respir Dis. 2016. PMID: 26341117 Free PMC article. Review.
Alpha-1-antitrypsin deficiency (AATD) is a hereditary disorder that is characterized by a low serum level of alpha-1-antitrypsin (AAT). The loss of anti-inflammatory and antiproteolytic functions, together with pro-inflammatory effects of polymerized AAT contribute to prot …
Alpha-1-antitrypsin deficiency (AATD) is a hereditary disorder that is characterized by a low serum level of alpha-1-antitrypsin (AAT …
[Alpha1-antitrypsin deficiency].
Köhnlein T, Rifai K. Köhnlein T, et al. Internist (Berl). 2010 Mar;51 Suppl 1:269-76. doi: 10.1007/s00108-009-2505-9. Internist (Berl). 2010. PMID: 20135085 Free article. Review. German.
Alpha(1)-antitrypsin deficiency is characterized by a pathologic reduction of the serum concentration of alpha(1)-antitrypsin, the most important antiprotease in man. It is one of the most common hereditary diseases in Caucasians. Approximately 2% of obstructive airway dis …
Alpha(1)-antitrypsin deficiency is characterized by a pathologic reduction of the serum concentration of alpha(1)-antitrypsin, the most impo …
Alveolar epithelial disintegrity in pulmonary fibrosis.
Kulkarni T, de Andrade J, Zhou Y, Luckhardt T, Thannickal VJ. Kulkarni T, et al. Am J Physiol Lung Cell Mol Physiol. 2016 Aug 1;311(2):L185-91. doi: 10.1152/ajplung.00115.2016. Epub 2016 May 27. Am J Physiol Lung Cell Mol Physiol. 2016. PMID: 27233996 Free PMC article. Review.
A number of genetic disorders linked to pulmonary fibrosis and familial interstitial pneumonias are associated with loss of epithelial integrity. However, the potential links between extrapulmonary clinical syndromes associated with defects in epithelial cells and the deve …
A number of genetic disorders linked to pulmonary fibrosis and familial interstitial pneumonias are associated with loss of epithelia …
Molecular basis of alpha-1-antitrypsin deficiency.
Brantly M, Nukiwa T, Crystal RG. Brantly M, et al. Am J Med. 1988 Jun 24;84(6A):13-31. doi: 10.1016/0002-9343(88)90154-4. Am J Med. 1988. PMID: 3289385 Review.
Alpha-1-antitrypsin (A1AT) deficiency is an autosomal hereditary disorder associated with a major reduction in serum A1AT levels. Clinically, A1AT deficiency is associated with emphysema in adults and, less commonly, liver disease in neonates. ...
Alpha-1-antitrypsin (A1AT) deficiency is an autosomal hereditary disorder associated with a major reduction in serum A1AT levels. Cli …
44 results