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Alpha1-antitrypsin deficiency. 1: epidemiology of alpha1-antitrypsin deficiency.
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3
Estimated numbers and prevalence of PI*S and PI*Z deficiency alleles of alpha1-antitrypsin deficiency in Asia.
Eur Respir J. 2006 Dec;28(6):1091-9. doi: 10.1183/09031936.00029806. Epub 2006 Sep 27.
6
Alpha1-antitrypsin review.
Clin Chest Med. 2014 Mar;35(1):39-50. doi: 10.1016/j.ccm.2013.10.001. Epub 2013 Dec 12.
8
Alpha-1 antitrypsin deficiency is not a rare disease but a disease that is rarely diagnosed.
Environ Health Perspect. 2003 Dec;111(16):1851-4. doi: 10.1289/ehp.6511.
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Alpha-1 antitrypsin Pi*Z gene frequency and Pi*ZZ genotype numbers worldwide: an update.
Int J Chron Obstruct Pulmon Dis. 2017 Feb 13;12:561-569. doi: 10.2147/COPD.S125389. eCollection 2017.
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Estimated Worldwide Prevalence of the PI*ZZ Alpha-1 Antitrypsin Genotype in Subjects With Chronic Obstructive Pulmonary Disease.
Arch Bronconeumol. 2023 Jul;59(7):427-434. doi: 10.1016/j.arbres.2023.03.016. Epub 2023 Mar 30.

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Susceptibility of alpha-1 antitrypsin deficiency variants to polymer-blocking therapy.
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Comparison of COVID-19 Outcomes With Alpha-1 Antitrypsin Deficiency Prevalence in Europe: A Cross-Sectional Study.
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Radiographic Phenotypes Affect the Risk of Inhaled Corticosteroid-Associated Pneumonia in Patients with COPD.
Int J Chron Obstruct Pulmon Dis. 2022 Sep 18;17:2301-2315. doi: 10.2147/COPD.S372735. eCollection 2022.
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Global 5'-UTR RNA structure regulates translation of a SERPINA1 mRNA.
Nucleic Acids Res. 2022 Sep 23;50(17):9689-9704. doi: 10.1093/nar/gkac739.
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The emerging role of proteases in α-antitrypsin deficiency and beyond.
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Variants of and the increasing complexity of testing for alpha-1 antitrypsin deficiency.
Ther Adv Chronic Dis. 2021 Jul 29;12_suppl:20406223211015954. doi: 10.1177/20406223211015954. eCollection 2021.

本文引用的文献

1
Genetic epidemiology of alpha-1 antitrypsin deficiency in southern Europe: France, Italy, Portugal and Spain.
Clin Genet. 2003 Jun;63(6):490-509. doi: 10.1034/j.1399-0004.2003.00078.x.
6
Alpha1-antitrypsin deficiency--a model for conformational diseases.
N Engl J Med. 2002 Jan 3;346(1):45-53. doi: 10.1056/NEJMra010772.
7
Siblings of patients with severe chronic obstructive pulmonary disease have a significant risk of airflow obstruction.
Am J Respir Crit Care Med. 2001 Oct 15;164(8 Pt 1):1419-24. doi: 10.1164/ajrccm.164.8.2105002.
8
Alpha-1-antitrypsin PI phenotypes S and Z in Europe: an analysis of the published surveys.
Clin Genet. 2001 Jul;60(1):31-41. doi: 10.1034/j.1399-0004.2001.600105.x.
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Usefulness of a national registry of alpha-1-antitrypsin deficiency. The Spanish experience.
Respir Med. 1998 Oct;92(10):1181-7. doi: 10.1016/s0954-6111(98)90418-8.

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