Role of alpha‐1 antitrypsin in human health and disease

F De Serres, I Blanco - Journal of internal medicine, 2014 - Wiley Online Library
Abstract Alpha‐1 antitrypsin (AAT) deficiency is an under‐recognized hereditary disorder
associated with the premature onset of chronic obstructive pulmonary disease, liver cirrhosis …

[HTML][HTML] Alpha-1 antitrypsin deficiency

E Kelly, CM Greene, TP Carroll, NG McElvaney… - Respiratory Medicine …, 2011 - Elsevier
Objective To review the topic of alpha-1 antitrypsin (AAT) deficiency. Method Narrative
literature review. Results Much work has been carried out on this condition with many …

Molecular basis of alpha-1-antitrypsin deficiency

M Brantly, T Nukiwa, RG Crystal - The American journal of medicine, 1988 - Elsevier
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 …

Alpha-1 antitrypsin deficiency: pathogenesis, clinical presentation, diagnosis, and treatment

T Köhnlein, T Welte - The American journal of medicine, 2008 - Elsevier
Alpha-1 antitrypsin deficiency is an inherited disease affecting the lung and liver. The typical
pulmonary manifestation is chronic obstructive pulmonary disease and emphysema. Severe …

Alpha‐1 antitrypsin deficiency: a conformational disease associated with lung and liver manifestations

CM Greene, SDW Miller, T Carroll… - Journal of Inherited …, 2008 - Wiley Online Library
Summary Alpha‐1 antitrypsin (A1AT) is a serine anti‐protease produced chiefly by the liver.
A1AT deficiency is a genetic disorder characterized by serum levels of less than 11 μmol/L …

Alpha-1 antitrypsin deficiency: outstanding questions and future directions

M Torres-Durán, JL Lopez-Campos… - Orphanet journal of rare …, 2018 - Springer
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 …

α1-antitrypsin deficiency: biological answers to clinical questions

RJ Coakley, C Taggart, S O'Neill… - The American journal of …, 2001 - Elsevier
ABSTRACT α1-antitrypsin (α1AT) deficiency is a common lethal hereditary disorder of white
persons of European descent. The condition is characterized by reduced serum levels of α …

Diagnosis of α-1-antitrypsin deficiency: an algorithm of quantification, genotyping, and phenotyping

MR Snyder, JA Katzmann, ML Butz, P Yang… - Clinical …, 2006 - academic.oup.com
Background: Laboratory testing in suspected α-1-antitrypsin (A1AT) deficiency involves
analysis of A1AT concentrations and identification of specific alleles by genotyping or …

Liver disease in alpha-1 antitrypsin deficiency: current understanding and future therapy

JH Teckman - COPD: Journal of Chronic Obstructive Pulmonary …, 2013 - Taylor & Francis
Abstract Alpha-1 antitrypsin Deficiency (AATD) is a common, but under recognized
metabolic genetic disease. Although many mutations in the alpha-1 antitrypsin (AAT) gene …

American Thoracic Society/European Respiratory Society statement: standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency.

JK Stoller, GL Snider, ML Brantly, RJ Fallat… - American Journal of …, 2003 - iris.unipv.it
Since the first American Thoracic Society statement regarding the diagnosis and
management of severe alpha-1 antitrypsin (AAT) deficiency in 1989 (1) and the initial …