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Alpha‐1‐Antitrypsin Deficiency [PDF]

Clinical Liver Disease, 2022
Content available: Author Audio Recording.
Anandini Suri, Dhiren Patel, Jeffery Teckman   +2 more
core   +7 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.
James Ralph, Noel mcelvaney, Tomás P. Carroll   +2 more
exaly   +4 more sources

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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, Wen, Xue, Terence R, Flotte   +2 more
openaire   +3 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
  +6 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

, 2021
The subject of this review is alpha-1-antitrypsin deficiency (A1AD), which is a rare hereditary disease with great impact in adults, especially smokers, quality of life and longevity. Early diagnosis is crucial for treatment outcome.
Jensen, Jens-Ulrik, de Vos, Jesper Dichmann, Wilcke, Jon Torgny, Løkke, Anders, Hillberg, Ole, Perch, Michael   +5 more
core   +3 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, M, Kage, C T, Liew, Y, Xu, R L, Peters   +4 more
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

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

Treatment of Alpha-1 Antitrypsin Deficiency

Seminars in Respiratory and Critical Care Medicine, 2015
Alpha-1 antitrypsin deficiency (AATD) is a rare genetic disease that creates multiple unique phenotypes of chronic obstructive pulmonary disease. While bronchospasm, cough, dyspnea, and sputum production all occur with AATD, the phenotypic differences require a computed tomographic (CT) scan to decipher.
Charlie, Strange, Tatsiana, Beiko
openaire   +2 more sources