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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.
SK Kabra, Rakesh Lodha, Kana Jat
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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 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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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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[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 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 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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Cerebrospinal fluid alpha‐1‐antitrypsin alpha‐1‐antitrypsin‐elastase complex levels in meningitis
European Journal of Clinical Investigation, 1989Abstract. Alpha‐1‐antitrypsin (A‐1‐AT) and A‐1‐AT‐elastase complex levels in cerebrospinal fluid have been evaluated in 11 children with viral meningitis (VM), 14 with bacterial meningitis (BM), 10 with tuberculous meningitis (TBM) and 10 investigated for, but found not to have meningitis (NM).
Du Hoffman P.H. +3 more
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Detecting Alpha-1 Antitrypsin Deficiency
Annals of the American Thoracic Society, 2016Alpha-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 health care providers; failure ...
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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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