Results 211 to 220 of about 107,093 (255)
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Alpha-1 Antitrypsin Deficiency
Methods in molecular biology, 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.
Alisha M, Gruntman +2 more
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Detecting Alpha-1 Antitrypsin Deficiency
Annals of the American Thoracic Society, 2016Abstract Alpha-1 antitrypsin deficiency is a widely underrecognized condition, with evidence of persisting long diagnostic delays and patients’ frequent need to see multiple physicians before initial diagnosis. Reasons for underrecognition include inadequate understanding of alpha-1 antitrypsin deficiency by physicians and allied ...
James K Stoller
exaly +3 more sources
Alpha-1 antitrypsin deficiency–associated panniculitis
Journal of the American Academy of Dermatology, 2022 Background: Panniculitis represents a rare and potentially lethal manifestation of alpha-1 antitrypsin deficiency (AATD). Evidence regarding management is limited to case reports and small case series.
Alessandro N Franciosi +2 more
exaly +2 more sources
The spectrum of clinical sequelae associated with alpha-1 antitrypsin deficiency
Therapeutic Advances in Chronic Disease, 2021 Alpha-1 antitrypsin (AAT) deficiency (AATD) is an autosomal co-dominant condition that predisposes to the development of lung disease, primarily emphysema.
Vickram Tejwani, James K Stoller
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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.
SK Kabra, Rakesh Lodha, Kana Jat
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Alpha-1 antitrypsin deficiency: a re-surfacing adult liver disorder.
Journal of Hepatology, 2021Alpha-1 antitrypsin deficiency (AATD) arises from mutations in the SERPINA1 gene encoding alpha-1 antitrypsin (AAT) that lead to AAT retention in the endoplasmic reticulum of hepatocytes, causing proteotoxic liver injury and loss-of-function lung disease.
M. Fromme +4 more
semanticscholar +1 more source
Cancer risk in severe alpha-1-antitrypsin deficiency
European Respiratory Journal, 2022Background Severe alpha-1-antitrypsin deficiency (AATD), phenotype PiZZ, is a risk factor for pulmonary emphysema and liver disease, but its effect on cancer risk is unknown.
Adriana-Maria Hiller +5 more
semanticscholar +1 more source
Journal of Hepatology, 2018
BACKGROUND & AIMS Alpha-1 antitrypsin deficiency (AATD) is an uncommonly recognized cause of liver disease in adults, with descriptions of its natural history limited to case series and patient-reported data from disease registries.
Virginia Clark +2 more
exaly +2 more sources
BACKGROUND & AIMS Alpha-1 antitrypsin deficiency (AATD) is an uncommonly recognized cause of liver disease in adults, with descriptions of its natural history limited to case series and patient-reported data from disease registries.
Virginia Clark +2 more
exaly +2 more sources
Alpha-1-antitrypsin augmentation therapy for alpha-1-antitrypsin deficiency
The American Journal of Medicine, 1988Alpha-1-antitrypsin (A1AT) deficiency is a genetic disorder characterized by low serum levels of A1AT and a high risk for the development of emphysema. A1AT is the principal inhibitor of neutrophil elastase, such that a deficiency of A1AT results in insufficient anti-elastase protection in the lower respiratory tract, thus allowing neutrophil elastase ...
R C, Hubbard, R G, Crystal
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Alpha-1-antitrypsin deficiency in childhood
Current Problems in Pediatrics, 1980alpha 1AT deficiency predisposes children to liver injury and adults to emphysema. Pi typing has clarified that the inherited deficiency is codominant. Amniocentesis is unproved as a reliable technique in detecting the homozygous deficient patient (another controversial issue).
J S, Latimer, H L, Sharp
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