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The American journal of gastroenterology, ISSN 1572-0241, 2008, Volume 103, Issue 8, pp. 2136 - 2141
Alpha 1-antitrypsin deficiency is an inherited metabolic disorder that predisposes the affected individual to chronic pulmonary disease, in addition to chronic liver disease, cirrhosis, and hepatocellular carcinoma... 
Gastroenterology & Hepatology | Life Sciences & Biomedicine | Science & Technology | alpha 1-Antitrypsin Deficiency - genetics | Phenotype | alpha 1-Antitrypsin Deficiency - complications | Humans | Liver Diseases - etiology | Liver Diseases - pathology | Liver Diseases - therapy | alpha 1-Antitrypsin Deficiency - pathology | Alpha 1-antitrypsin | Liver diseases | Index Medicus
Journal Article
EMBO molecular medicine, ISSN 1757-4684, 02/2013, Volume 5, Issue 3, pp. 397 - 412
Alpha‐1‐anti‐trypsin deficiency is the most common genetic cause of liver disease in children and liver transplantation is currently the only available treatment... 
TFEB | gene therapy | alpha‐1‐anti‐trypsin | autophagy | helper‐dependent adenoviral vector | Alpha-1-anti-trypsin | Helper-dependent adenoviral vector | Gene therapy | Autophagy | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Liver - pathology | Liver - enzymology | Microtubule-Associated Proteins - genetics | Humans | NF-kappa B - metabolism | Mutation, Missense | Lysosomes - metabolism | Transfection | Time Factors | Liver Cirrhosis - metabolism | Autophagy - genetics | Microtubule-Associated Proteins - deficiency | Interleukin-6 - metabolism | Liver Cirrhosis - genetics | Disease Models, Animal | alpha 1-Antitrypsin Deficiency - genetics | Gene Transfer Techniques | Genetic Predisposition to Disease | alpha 1-Antitrypsin - genetics | alpha 1-Antitrypsin Deficiency - therapy | Mice, Inbred C57BL | Mice, Transgenic | Liver Cirrhosis - therapy | alpha 1-Antitrypsin Deficiency - metabolism | Mice, Knockout | Papio | Autophagy-Related Protein 7 | Phenotype | Animals | alpha 1-Antitrypsin Deficiency - complications | Basic Helix-Loop-Helix Leucine Zipper Transcription Factors - genetics | Liver Cirrhosis - pathology | Basic Helix-Loop-Helix Leucine Zipper Transcription Factors - metabolism | Mice | alpha 1-Antitrypsin - metabolism | HeLa Cells | Apoptosis | Genetic Therapy - methods | Proteins | Trypsin | Liver diseases | Genes | Genetic engineering | Genetic transcription | Health aspects | Phenotypes | Gene transfer | Syngeneic grafts | Cloning | Transgenic mice | Gene expression | Medical screening | Studies | Allografts | Plasmids | Fibrosis | Polymers | Phagocytosis | Deoxyribonucleic acid--DNA | Liver transplantation | Index Medicus | helper-dependent adenoviral vector | alpha-1-anti-trypsin
Journal Article
Human gene therapy, ISSN 1043-0342, 08/2018, Volume 29, Issue 8, pp. 853 - 860
Journal Article
The Journal of biological chemistry, ISSN 0021-9258, 11/2012, Volume 287, Issue 45, pp. 38265 - 38278
Journal Article
Respiratory medicine, ISSN 0954-6111, 2015, Volume 109, Issue 4, pp. 490 - 499
Summary Background Alpha1 -antitrypsin deficiency (AATD) is an underdiagnosed genetic disorder that results in early-onset emphysema due to low serum levels of alpha1 -proteinase inhibitor (alpha1 -PI... 
Pulmonary/Respiratory | Chronic obstructive pulmonary disease | Alpha1-proteinase inhibitor | SPARTA | CT densitometry | Prolastin-C | Alpha1-antitrypsin deficiency | proteinase inhibitor | Alpha | antitrypsin deficiency | Pulmonary Emphysema - diagnosis | Pulmonary Emphysema - etiology | Humans | Middle Aged | alpha 1-Antitrypsin Deficiency - drug therapy | Tomography, X-Ray Computed - methods | Biological Availability | Male | Dose-Response Relationship, Drug | Serine Proteinase Inhibitors - adverse effects | Absorptiometry, Photon - methods | Adult | Female | Serine Proteinase Inhibitors - administration & dosage | Lung - pathology | Serine Proteinase Inhibitors - pharmacokinetics | Pulmonary Emphysema - drug therapy | Treatment Outcome | Lung - physiopathology | Disease Progression | alpha 1-Antitrypsin Deficiency - diagnosis | alpha 1-Antitrypsin - administration & dosage | alpha 1-Antitrypsin Deficiency - complications | alpha 1-Antitrypsin Deficiency - physiopathology | Aged | alpha 1-Antitrypsin - pharmacokinetics | Respiratory Function Tests | Research Design | alpha 1-Antitrypsin - adverse effects | Plasma | Thoracic surgery | Medical imaging | Transplants & implants | Mortality | Clinical trials | Studies | Antibiotics | Surgery | Tomography | Drug therapy | Emphysema | Index Medicus
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 04/2016, Volume 53, Issue 4, pp. 280 - 288
Journal Article