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NEW ENGLAND JOURNAL OF MEDICINE, ISSN 0028-4793, 06/2009, Volume 360, Issue 26, pp. 2749 - 2757
A 60-year-old white man presents for evaluation of progressive dyspnea. He is a former smoker with a 20-pack-year smoking history and a 10-year history of... 
MEDICINE, GENERAL & INTERNAL | OBSTRUCTIVE PULMONARY-DISEASE | LUNG TRANSPLANTATION | VOLUME-REDUCTION SURGERY | EMPHYSEMA | SEVERE ALPHA-1-ANTITRYPSIN DEFICIENCY | MZ HETEROZYGOTES | LIVER-DISEASE | SINGLE-LUNG | AIR-FLOW OBSTRUCTION | AUGMENTATION THERAPY
Journal Article
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, ISSN 1073-449X, 02/2012, Volume 185, Issue 3, pp. 246 - 259
alpha(1)-Antitrypsin (AAT) deficiency is an underrecognized genetic condition that affects approximately 1 in 2,000 to 1 in 5,000 individuals and predisposes... 
COST-EFFECTIVENESS ANALYSIS | OBSTRUCTIVE PULMONARY-DISEASE | VOLUME-REDUCTION SURGERY | RESPIRATORY SYSTEM | SEVERE ALPHA-1-ANTITRYPSIN DEFICIENCY | PI-TYPE-Z | ALPHA-1 ANTITRYPSIN DEFICIENCY | BRITISH-THORACIC-ASSOCIATION | MEDIATE INCREASED SECRETION | LUNG-FUNCTION IMPAIRMENT | AIR-FLOW OBSTRUCTION | CRITICAL CARE MEDICINE
Journal Article
CLINICS IN CHEST MEDICINE, ISSN 0272-5231, 09/2016, Volume 37, Issue 3, pp. 487 - 487
Journal Article
Alimentary Pharmacology & Therapeutics, ISSN 0269-2813, 07/2018, Volume 48, Issue 2, pp. 232 - 233
Linked Content This article is linked to Townsend et al and Turner papers. To view these articles visit https://doi.org/10.1111/apt.14537 and... 
DIAGNOSIS | PHARMACOLOGY & PHARMACY | ALPHA-1-ANTITRYPSIN DEFICIENCY | GASTROENTEROLOGY & HEPATOLOGY | ANCA | Liver | Granulomatosis
Journal Article
Clinics and Research in Hepatology and Gastroenterology, ISSN 2210-7401, 02/2019, Volume 43, Issue 1, pp. 77 - 81
Alpha-1-antitrypsin deficiency (A1ATD) is a common genetic condition which predisposes to emphysema and liver disorders. It is estimated that 10–15% of... 
Cirrhosis | Transient elastography | Liver disease | Fibrosis | Fibroscan | Alpha-1-antitrypsin deficiency | INVOLVEMENT | Fibroscan (R) | MARKERS | PREVALENCE | HEPATOCELLULAR-CARCINOMA | STIFFNESS | SIMPLE NONINVASIVE INDEX | PREDICT | DISEASE | OUTCOMES | GASTROENTEROLOGY & HEPATOLOGY | Life Sciences
Journal Article
THORAX, ISSN 0040-6376, 02/2004, Volume 59, Issue 2, pp. 164 - 169
The protein and molecular characteristics of variants of the alpha(1)-antitrypsin (AAT) gene are described, and available data on the genetic epidemiology of... 
ALPHA-1-ANTITRYPSIN PI PHENOTYPES | EUROPE | POPULATION | OBSTRUCTIVE PULMONARY-DISEASE | VARIANTS | SUBTYPES | RESPIRATORY SYSTEM | ALPHA1-ANTITRYPSIN DEFICIENCY | SERPIN GENE-CLUSTER | SERUM | 14Q32.1
Journal Article
EUROPEAN JOURNAL OF GASTROENTEROLOGY & HEPATOLOGY, ISSN 0954-691X, 07/2018, Volume 30, Issue 7, pp. 774 - 778
Background-1 Antitrypsin (AAT) deficiency is the most frequently occurring genetic liver disorder. The association among classical -1 antitrypsin deficiency... 
alpha-1 antitrypsin | phenotype | THERAPY | liver disease | CHRONIC LIVER-DISEASE | alpha-1 antitrypsin deficiency | ALPHA-1-ANTITRYPSIN DEFICIENCY | GASTROENTEROLOGY & HEPATOLOGY | CHILDHOOD | child | Symptomatology | Genetic aspects | Children | Research | Comparative analysis | Pediatric research | Diseases
Journal Article
TRENDS IN MOLECULAR MEDICINE, ISSN 1471-4914, 02/2014, Volume 20, Issue 2, pp. 116 - 127
Journal Article
EUROPEAN RESPIRATORY JOURNAL, ISSN 0903-1936, 11/2017, Volume 50, Issue 5
alpha(1)-antitrypsin deficiency (AATD) is the most common hereditary disorder in adults. It is associated with an increased risk of developing pulmonary... 
LUNG-VOLUME REDUCTION | PI-ASTERISK-S | SURVIVAL BENEFIT | RESPIRATORY SYSTEM | SEVERE ALPHA-1-ANTITRYPSIN DEFICIENCY | REPLACEMENT THERAPY | ANTITRYPSIN DEFICIENCY | ALPHA-1 PROTEINASE-INHIBITOR | COMPUTED-TOMOGRAPHY | AUGMENTATION THERAPY | HEALTH-STATUS
Journal Article
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, ISSN 1073-449X, 02/2014, Volume 189, Issue 4, pp. 419 - 427
Rationale: Severe alpha(1)-antitrypsin deficiency (typically PiZZ homozygosity) is associated with a significantly increased risk of airflow obstruction and... 
POPULATION | STANDARDIZATION | LUNG-FUNCTION | MZ HETEROZYGOTES | NEUTROPHIL ELASTASE | heterozygote | FAMILY-BASED ASSOCIATION | INDIVIDUALS | RESPIRATORY SYSTEM | EMPHYSEMA | alpha-antitrypsin | ALPHA-1-ANTITRYPSIN DEFICIENCY | chronic obstructive pulmonary disease | AIR-FLOW OBSTRUCTION | CRITICAL CARE MEDICINE
Journal Article
Journal Article
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, ISSN 1073-449X, 12/2007, Volume 176, Issue 12, pp. 1215 - 1221
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 01/2015, Volume 114, Issue 1, pp. 1 - 10
Inborn errors of metabolism (IEMs) are a group of genetic diseases that have protean clinical manifestations and can involve several organ systems. The age of... 
HFE-associated hemochromatosis | Alpha-1 antitrypsin deficiency | Inborn errors of metabolism | Wilson disease | Citrin deficiency | CITRIN DEFICIENCY NICCD | WEGENERS-GRANULOMATOSIS | MEDICINE, RESEARCH & EXPERIMENTAL | HEPATOLENTICULAR-DEGENERATION | ALPHA-ANTITRYPSIN DEFICIENCY | WILSON-DISEASE GENE | HEREDITARY HEMOCHROMATOSIS | ARGININOSUCCINATE SYNTHETASE | HEPATIC IRON OVERLOAD | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | II CITRULLINEMIA CTLN2 | ALPHA-1-ANTITRYPSIN DEFICIENCY | Hemochromatosis Protein | Humans | Hepatolenticular Degeneration - diagnosis | Hepatolenticular Degeneration - physiopathology | Metabolism, Inborn Errors - therapy | Organic Anion Transporters - deficiency | Adult | Child | Hemochromatosis - genetics | alpha 1-Antitrypsin Deficiency - genetics | Hemochromatosis - therapy | alpha 1-Antitrypsin Deficiency - therapy | Membrane Proteins - genetics | Calcium-Binding Proteins - deficiency | Histocompatibility Antigens Class I - genetics | Metabolism, Inborn Errors - genetics | alpha 1-Antitrypsin Deficiency - diagnosis | Metabolism, Inborn Errors - diagnosis | alpha 1-Antitrypsin Deficiency - physiopathology | Liver Diseases - diagnosis | Hepatolenticular Degeneration - genetics | Hemochromatosis - diagnosis | Liver Diseases - physiopathology | Metabolism, Inborn Errors - physiopathology | Hemochromatosis - physiopathology | Metabolism, Inborn errors of | Physiological aspects | Adults | Liver diseases
Journal Article