Risk of lung disease with the Pi*SS genotype of alpha-1 antitrypsin: the evidence in context.
作者信息
O'Brien Helen, McCarthy Cormac, Franciosi Alessandro N
机构信息
Department of Respiratory Medicine, St Vincent's University Hospital, Elm Park Dublin 4, Dublin, Ireland.
School of Medicine, University College Dublin, Dublin, Ireland.
出版信息
Respir Res. 2025 Jan 24;26(1):37. doi: 10.1186/s12931-024-03066-9.
Abstract
摘要
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本文引用的文献
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Respir Res. 2024 Jun 26;25(1):260. doi: 10.1186/s12931-024-02879-y.
2
Alpha-1 antitrypsin deficiency: clarifying the role of the putative protective threshold.α-1抗胰蛋白酶缺乏症：阐明假定保护阈值的作用。
Eur Respir J. 2022 Feb 10;59(2). doi: 10.1183/13993003.01410-2021. Print 2022 Feb.
3
SZ alpha-1 antitrypsin deficiency and pulmonary disease: more like MZ, not like ZZ.SZ 型α-1 抗胰蛋白酶缺乏与肺部疾病：更像 MZ 型，而不像 ZZ 型。
Thorax. 2021 Mar;76(3):298-301. doi: 10.1136/thoraxjnl-2020-215250. Epub 2020 Sep 11.
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The undiagnosed disease burden associated with alpha-1 antitrypsin deficiency genotypes.与α-1抗胰蛋白酶缺乏基因型相关的未确诊疾病负担。
Eur Respir J. 2020 Dec 10;56(6). doi: 10.1183/13993003.01441-2020. Print 2020 Dec.
5
Clarifying the Risk of Lung Disease in SZ Alpha-1 Antitrypsin Deficiency.明确 SZ Alpha-1 抗胰蛋白酶缺乏症的肺病风险。
Am J Respir Crit Care Med. 2020 Jul 1;202(1):73-82. doi: 10.1164/rccm.202002-0262OC.
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Prevalence of α1-antitrypsin deficiency alleles PI*S and PI*Z worldwide and effective screening for each of the five phenotypic classes PI*MS, PI*MZ, PI*SS, PI*SZ, and PI*ZZ: a comprehensive review.全球α1-抗胰蛋白酶缺乏等位基因 PI*S 和 PI*Z 的流行情况以及对五种表型类别 PI*MS、PI*MZ、PI*SS、PI*SZ 和 PI*ZZ 的每一种进行有效筛查：综合评价。
Ther Adv Respir Dis. 2012 Oct;6(5):277-95. doi: 10.1177/1753465812457113. Epub 2012 Aug 29.
7
The prevalence of alpha-1 antitrypsin deficiency in Ireland.爱尔兰的α-1 抗胰蛋白酶缺乏症的流行情况。
Respir Res. 2011 Jul 13;12(1):91. doi: 10.1186/1465-9921-12-91.
8
Replacement therapy for alpha 1-antitrypsin deficiency associated with emphysema.与肺气肿相关的α1-抗胰蛋白酶缺乏症的替代疗法。
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Use of a highly purified alpha 1-antitrypsin standard to establish ranges for the common normal and deficient alpha 1-antitrypsin phenotypes.使用高度纯化的α1-抗胰蛋白酶标准品来确定常见正常和缺陷α1-抗胰蛋白酶表型的范围。
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