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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 in malakoplakia
Virchows Archiv A Pathological Anatomy and Histology, 1982Macrophages in malakoplakia contain large amounts of immunoreactive alpha-1-antitrypsin (AAT). The amount of AAT remains unchanged during the morphogenetic stages of the pathological process (early, granulomatous, fibrosing phases), and does not correlate with the number or the presence of Michaelis-Gutmann (M.G.) bodies.
F, Callea, B, Van Damme, V J, Desmet
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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.
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1976
Proteinasen sind proteinspaltende Enzyme, die normalerweise nicht als solche im Plasma vorkommen, sondern als Vorstufen, die ihre Aktivitat erst durch Interaktion mit einem oder mehreren Aktivatoren erhalten. Dabei handelt es sich entweder um „selbstandige“ Proenzyme oder um solche, die zu Kaskadensystemen gehoren (ein aus einer Vorstufe entstehendes ...
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Proteinasen sind proteinspaltende Enzyme, die normalerweise nicht als solche im Plasma vorkommen, sondern als Vorstufen, die ihre Aktivitat erst durch Interaktion mit einem oder mehreren Aktivatoren erhalten. Dabei handelt es sich entweder um „selbstandige“ Proenzyme oder um solche, die zu Kaskadensystemen gehoren (ein aus einer Vorstufe entstehendes ...
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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].
Revue des maladies respiratoires, 2016Pulmonary emphysema and liver disease are the clinical expressions of alpha 1-antitrypsin deficiency, an autosomal recessive genetic disease.Alpha 1-antitrypsin deficiency is usually associated with the homozygous Z variant of the SERPINA1 gene.
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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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RHEUMATOID ARTHRITIS AND ALPHA-1-ANTITRYPSIN
The Lancet, 1976The genetic types of alpha1-antitrypsin (Pi types) were studied in 55 adults with classical or definite rheumatoid arthritis and 56 children with juvenile rheumatoid arthritis. A comparison was made with control groups of 211 healthy adults and 512 schoolchildren.
D W, Cox, O, Huber
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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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