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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 +5 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 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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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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Treatment of Alpha-1 Antitrypsin Deficiency
Seminars in Respiratory and Critical Care Medicine, 2015Alpha-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
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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.
Ricardo, Valverde +4 more
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MZ Alpha-1 Antitrypsin Deficiency
American Journal of Respiratory and Critical Care Medicine, 2022Oliver J, McElvaney +4 more
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Alpha-1 antitrypsin deficiency
The Nurse Practitioner, 2014Cathy R, Kessenich, Kathryn, Bacher
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Alpha-1-Antitrypsin Deficiency
Clinics in Chest Medicine, 1983S, Idell, A B, Cohen
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