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LANCET, ISSN 0140-6736, 06/2005, Volume 365, Issue 9478, pp. 2225 - 2236
alpha 1-antitrypsin deficiency is a genetic disorder that affects about one in 2000-5000 individuals. It is clinically characterised by liver disease and... 
PULMONARY-EMPHYSEMA | MEDICINE, GENERAL & INTERNAL | COST-EFFECTIVENESS | VOLUME-REDUCTION SURGERY | ALPHA-ANTITRYPSIN DEFICIENCY | ALPHA1-ANTITRYPSIN DEFICIENCY | PI-TYPE-Z | REPLACEMENT THERAPY | ALPHA-1 ANTITRYPSIN DEFICIENCY | MEDIATE INCREASED SECRETION | AUGMENTATION THERAPY
Journal Article
The American Journal of Gastroenterology, ISSN 0002-9270, 08/2008, Volume 103, Issue 8, pp. 2136 - 2141
Journal Article
Nature Reviews Gastroenterology & Hepatology, ISSN 1759-5045, 04/2017, Volume 14, Issue 4, p. 201
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Allergy, ISSN 0105-4538, 11/2018, Volume 73, Issue 11, p. 2110
Journal Article
JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION, ISSN 0277-2116, 02/2014, Volume 58, Issue 2, pp. 199 - 203
Objective: The Alpha-1 Foundation convened a workshop to consider the appropriateness of newborn screening for alpha-1-antitrypsin (AAT) deficiency. Methods: A... 
NUTRITION & DIETETICS | liver disease | ALPHA-ANTITRYPSIN DEFICIENCY | pediatrics | smoking | HEALTH | hepatitis | LIVER-DISEASE | GASTROENTEROLOGY & HEPATOLOGY | genetic disease | FEATURES
Journal Article
PLoS ONE, ISSN 1932-6203, 06/2017, Volume 12, Issue 6, pp. e0179369 - e0179369
Background The most common and severe disease causing allele of Alpha 1-Antitrypsin Deficiency (1ATD) is Z-1AT. This protein aggregates in the endoplasmic... 
UNFOLDED PROTEIN RESPONSE | ALPHA-ANTITRYPSIN DEFICIENCY | MULTIDISCIPLINARY SCIENCES | DISEASE | MUTANT ALPHA-1-ANTITRYPSIN | HERP | ENDOPLASMIC-RETICULUM STRESS | DEFI-ALPHA COHORT | MISFOLDED PROTEINS | SACCHAROMYCES-CEREVISIAE | INTACT YEAST-CELLS | alpha 1-Antitrypsin Deficiency - genetics | Cell Line | Liver - pathology | Membrane Proteins - genetics | Endoplasmic Reticulum-Associated Degradation - genetics | Humans | Liver - metabolism | Ubiquitin-Protein Ligases - metabolism | Male | Hemochromatosis Protein - metabolism | Mutation, Missense | alpha 1-Antitrypsin Deficiency - metabolism | Protein Aggregation, Pathological - pathology | Hemochromatosis Protein - genetics | Liver Cirrhosis - metabolism | Liver Cirrhosis - pathology | Female | Membrane Proteins - metabolism | Ubiquitin-Protein Ligases - genetics | Liver Cirrhosis - genetics | Protein Aggregation, Pathological - genetics | Protein Aggregation, Pathological - metabolism | Amino Acid Substitution | Usage | Cell death | Genetic aspects | Research | Liver cirrhosis | Alpha 1-antitrypsin deficiency | Risk factors | Genetic screening | Liver | Impairment | Gene sequencing | Machinery and equipment | Degradation | Proteins | Genetics | Genetic factors | Enzymes | Liver diseases | Mortality | Group dynamics | Diseases | Children & youth | Screening | Pathology | Cirrhosis | Hospitals | Aggregates | Mutation | Endoplasmic reticulum | Viability | Cell proliferation | Biotechnology | Yeast | Transcription | Laboratories | Toxicity | Genes | Medical services | Risk | Kinases | Autophagy | Machinery | Defects | Functional anatomy | Protein folding | Hepatology | Gastroenterology | Mathematical models | Children | Injuries | Biodegradation | Nutrition | Damage detection | Plasmids | Cell lines | Cholestasis | Index Medicus | Life Sciences
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Journal Article
Chest, ISSN 0012-3692, 09/2018, Volume 154, Issue 3, p. 607
The deficiency of α -antitrypsin (AAT) is secondary to misfolding and polymerization of the abnormal Z-AAT in liver cells and is associated with lung... 
Lung diseases, Obstructive | Smokers | Polymerization | Genetic aspects | Alpha 1-antitrypsin | Research | Macrophages | Health aspects | Alpha 1-antitrypsin deficiency
Journal Article
European Journal of Clinical Investigation, ISSN 0014-2972, 09/2015, Volume 45, Issue 9, p. 949
[alpha].sub.1-Antitrypsin (AAT) deficiency (AATD) is a genetic condition associated with early-onset panacinar emphysema and, less often, vascular disease.... 
Blood circulation disorders | Alpha 1-antitrypsin
Journal Article
Clinical Chemistry and Laboratory Medicine, ISSN 1434-6621, 09/2015, Volume 53, Issue 10, p. e271
Journal Article
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, ISSN 1073-449X, 12/2004, Volume 170, Issue 11, pp. 1172 - 1178
FEV1 is fundamental to the diagnosis and staging of chronic obstructive pulmonary disease. In emphysema,,airflow obstruction usually coexists with impairment... 
computed tomography | DIFFUSING-CAPACITY | ALPHA-ANTITRYPSIN DEFICIENCY | CLINICAL-FEATURES | HIGH-RESOLUTION CT | lung densitometry | PULMONARY-EMPHYSEMA | COMPUTED DENSITY | RESPIRATORY SYSTEM | MORPHOMETRY | DISEASE | alpha 1-antitrypsin deficiency | AIR-FLOW OBSTRUCTION | HEALTH-STATUS | CRITICAL CARE MEDICINE
Journal Article
HUMAN MOLECULAR GENETICS, ISSN 0964-6906, 10/2014, Volume 23, Issue 19, pp. 5123 - 5132
alpha 1-Antitrypsin deficiency (ATD) is a common genetic disorder that can lead to end-stage liver and lung disease. Although liver transplantation remains the... 
PATHWAYS | HEPATOCELLULAR-CARCINOMA | CAENORHABDITIS-ELEGANS | INCLUSION-BODIES | ALPHA-ANTITRYPSIN DEFICIENCY | ALPHA1-ANTITRYPSIN DEFICIENCY | BIOCHEMISTRY & MOLECULAR BIOLOGY | EMPHYSEMA | GENETICS & HEREDITY | ENDOPLASMIC-RETICULUM | LIVER-DISEASE | STRATEGIES
Journal Article
LANCET RESPIRATORY MEDICINE, ISSN 2213-2600, 01/2017, Volume 5, Issue 1, pp. 7 - 8
Journal Article
Journal Article
Histopathology, ISSN 0309-0167, 02/2017, Volume 70, Issue 3, p. 485
Both homozygous and heterozygous [alpha].sub.1-antitrypsin (AAT) deficiency patients are at risk of developing hepatocellular carcinoma (HCC), but also of... 
Development and progression | Genetic aspects | Alpha 1-antitrypsin | Gene mutations | Liver cirrhosis | Liver | Mutation
Journal Article
HUMAN MOLECULAR GENETICS, ISSN 0964-6906, 10/2014, Volume 23, Issue 19, pp. 5109 - 5122
The accumulation of serpin oligomers and polymers within the endoplasmic reticulum (ER) causes cellular injury in patients with the classical form alpha... 
CAENORHABDITIS-ELEGANS | PROTEOTOXICITY | ALPHA-ANTITRYPSIN DEFICIENCY | ALPHA1-ANTITRYPSIN DEFICIENCY | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | ENDOPLASMIC-RETICULUM | INTERFERENCE | ACCUMULATION | LIVER-DISEASE | MUTANT ALPHA-ANTITRYPSIN-Z | TRANSGENIC MICE
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