Results 181 to 190 of about 18,796 (222)

Alpha‐1‐Antitrypsin Deficiency [PDF]

open access: yesClinical Liver Disease, 2022
Content available: Author Audio Recording.
Anandini Suri   +2 more
core   +5 more sources

Detecting Alpha-1 Antitrypsin Deficiency

Annals of the American Thoracic Society, 2016
Abstract 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

open access: yesJournal 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

Alpha-1 Antitrypsin Deficiency

Journal of Insurance Medicine, 2015
Alpha-1 antitrypsin deficiency is an inherited disorder that may cause severe lung and liver disease.
SK Kabra, Rakesh Lodha, Kana Jat
  +5 more sources

Alpha-1 Antitrypsin Deficiency

2023
Alpha-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
openaire   +2 more sources

Alpha-1-antitrypsin augmentation therapy for alpha-1-antitrypsin deficiency

The American Journal of Medicine, 1988
Alpha-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
openaire   +2 more sources

Alpha-1-antitrypsin deficiency in childhood

Current Problems in Pediatrics, 1980
alpha 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
openaire   +2 more sources

ALPHA‐1‐ANTITRYPSIN DEFICIENCY IN ADULTS

Acta Pathologica Japonica, 1986
A 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
openaire   +2 more sources

Deficiency of Alpha-1 Antitrypsin

Annals of Internal Medicine, 1973
Excerpt 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 ...
openaire   +2 more sources

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