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Correction to 'Underdiagnosis of Alpha-1 Antitrypsin Deficiency in Cirrhotic Liver Transplant Candidates: Findings From a Multicenter Retrospective Study'. [PDF]
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Alpha‐1‐Antitrypsin Deficiency [PDF]
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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
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
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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
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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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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ALPHA‐1‐ANTITRYPSIN DEFICIENCY IN ADULTS
Acta Pathologica Japonica, 1986A clinicopathological examination was carried out on eight adult patients with alpha‐1‐antitrypsin (ATT) deficiency. Phenotyping comfirmed five patients with PiMZ, two patients with PiZ‐, and one patient with PiZZ. Cirrhosis was found in six of the patients, four of whom had a history of excessive ethanol comsumption.
M, Kage +4 more
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Deficiency of Alpha-1 Antitrypsin
Annals of Internal Medicine, 1973Excerpt It is almost a decade since genetic deficiency of alpha-1 antitrypsin was discovered in Malmo, Sweden, by Laurell and Eriksson (1) and shown to be associated with a tendency to early-onset ...
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