Signs of Hyperinflation and Ventilation Heterogeneity in Individuals With Severe Alpha-1-Antitrypsin Deficiency at the Age of 42. [PDF]
Schramm GR +4 more
europepmc +1 more source
Advancing the understanding and treatment of lung pathologies associated with alpha 1 antitrypsin deficiency. [PDF]
Turner AM +7 more
europepmc +1 more source
Alpha-1 antitrypsin deficiency-associated liver disease: From understudied disorder to the poster child of genetic medicine. [PDF]
Fromme M +3 more
europepmc +1 more source
Progression and Augmentation Therapy in PiSZ and PiZZ Alpha-1 Antitrypsin Deficiency: A Longitudinal Functional and Densitometric Study. [PDF]
Esmaili S +5 more
europepmc +1 more source
Effect of Alpha-1 Antitrypsin Deficiency on Zinc Homeostasis Gene Regulation and Interaction with Endoplasmic Reticulum Stress Response-Associated Genes. [PDF]
Liuzzi JP +4 more
europepmc +1 more source
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Alpha‐1‐Antitrypsin Deficiency
Clinical Liver Disease, 2022Content available: Author Audio Recording.
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Alpha-1 Antitrypsin Deficiency
Journal of Insurance Medicine, 2015Alpha-1 antitrypsin deficiency is an inherited disorder that may cause severe lung and liver disease.
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Alpha-1 Antitrypsin Deficiency
2023Alpha-1 antitrypsin (AAT) deficiency is a common monogenic disorder in which there is a strong founder effect of a single missense mutation in SERPINA1, the gene encoding this major circulating serum anti-protease that is normally expressed primarily in hepatocytes.
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Alpha-1-Antitrypsin Deficiency Panniculitis
Dermatologic Clinics, 2008Alpha-1-antitrypsin deficiency is a congenital error of metabolism linked to pulmonary (emphysema) and liver (cirrhosis) disease. Since 1972, panniculitis has been associated with this deficiency, initially related to Weber-Christian syndrome and finally as a differentiated entity.
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