Alpha‐1 Antitrypsin Deficiency Liver Disease, Mutational Homogeneity Modulated by Epigenetic Heterogeneity With Links to Obesity
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DOI: 10.1002/hep.30526
Abstract: Alpha‐1 antitrypsin deficiency (AATD) liver disease is characterized by marked heterogeneity in presentation and progression, despite a common underlying gene mutation, strongly suggesting the involvement of other genetic and/or epigenetic modifiers. Variation in clinical phenotype… read more here.
Keywords: heterogeneity; alpha antitrypsin; aatd; disease ... See more keywords
Alpha-1 Antitrypsin Deficiency Detection in a Portuguese Population
Sign Up to like & getrecommendations! Published in 2018 at "COPD: Journal of Chronic Obstructive Pulmonary Disease"
DOI: 10.1080/15412555.2017.1414779
Abstract: ABSTRACT Alpha-1 antitrypsin deficiency (AATD) is an autosomal co-dominant disease characterised by low serum levels of this molecule. Its epidemiology remains unknown in many countries, mainly due to its underdiagnosed state and lack of patients’… read more here.
Keywords: aatd; deficiency; antitrypsin deficiency; alpha antitrypsin ... See more keywords
SZ alpha-1 antitrypsin deficiency and pulmonary disease: more like MZ, not like ZZ
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DOI: 10.1136/thoraxjnl-2020-215250
Abstract: The ZZ genotype of alpha-1 antitrypsin deficiency (AATD) is associated with COPD regardless of smoking. Heterozygous MZ-AATD is recognised as a moderate deficiency state, increasing the risk of COPD only among smokers. The risk attributable… read more here.
Keywords: alpha antitrypsin; aatd; antitrypsin deficiency; deficiency ... See more keywords
Impact of alpha 1-antitrypsin deficiency and prior augmentation therapy on patients' survival after lung transplantation
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DOI: 10.1183/13993003.00962-2017
Abstract: Alpha 1-antitrypsin (AAT) deficiency (AATD) is a genetic condition characterised by low serum levels of AAT and is associated with a high risk of developing early-onset pulmonary emphysema, especially in cigarette smokers [1]. The most… read more here.
Keywords: aatd; therapy; augmentation therapy; deficiency ... See more keywords
α1-Antitrypsin deficiency: count me in please!
Sign Up to like & getrecommendations! Published in 2017 at "European Respiratory Journal"
DOI: 10.1183/13993003.01941-2016
Abstract: Respiratory medicine is facing formidable challenges in the 21st century. Indeed, most respiratory medical research is becoming interconnected, translational and transnational, all embedded within so-called “planetary health” [1]. However, renewing estimates and trends from classical,… read more here.
Keywords: aatd; antitrypsin deficiency; count please; respiratory ... See more keywords