Results 171 to 180 of about 30,834,870 (206)
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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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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 ...
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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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Alpha-1 antitrypsin deficiency
Alpha-1 antitrypsin deficiency (AATD) is a rare hereditary condition caused by decreased plasma and tissue levels of alpha-1 antitrypsin (AAT) that can lead to serious lung and liver disease in children and adults. AATD patients face challenges such as under diagnosis, clinical variability, and limited treatment options for liver disease.Andrea Briem-Richter +2 more
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Variants of SERPINA1 and the increasing complexity of testing for alpha-1 antitrypsin deficiency
Therapeutic Advances in Chronic Disease, 2021Kimberly E Foil
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