Results 171 to 180 of about 3,462 (201)
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Alpha-1-Antitrypsin (A1AT) Proteotyping by LC-MS/MS
2023The diagnosis of alpha-1-antitrypsin (A1AT) deficiency is established by quantitation of protein concentration in serum (immunoassay) followed by determination of specific allelic variants by phenotyping (isoelectric focusing (IEF) gel electrophoresis) and/or allele-specific genotyping.
Jennifer, Kemp +2 more
openaire +2 more sources
Clinical Nephrology, 2008
The role of severe a1-antitrypsin (A1AT) deficiency in the predisposition of early-onset pulmonary emphysema and juvenile hepatic cirrhosis is well-established. Associated glomerulonephritis is unusual although it is well-recognized in children and young adults with the severe phenotype. We report the first adult case of A1AT deficiency presenting with
S M S, Ting, T, Toth, F, Caskey
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The role of severe a1-antitrypsin (A1AT) deficiency in the predisposition of early-onset pulmonary emphysema and juvenile hepatic cirrhosis is well-established. Associated glomerulonephritis is unusual although it is well-recognized in children and young adults with the severe phenotype. We report the first adult case of A1AT deficiency presenting with
S M S, Ting, T, Toth, F, Caskey
openaire +2 more sources
Clinical Biochemistry, 2021
The diagnosis of alpha-1-antitrypsin (A1AT) deficiency has been hindered by obscurity concerning the testing process and treatment implications. In this study, we aimed to identify regional differences in the diagnostic rates for A1AT deficiency in the western Canadian provinces of British Columbia (BC) and Alberta (AB).The number of A1AT deficiency ...
Mathew P Estey +2 more
exaly +3 more sources
The diagnosis of alpha-1-antitrypsin (A1AT) deficiency has been hindered by obscurity concerning the testing process and treatment implications. In this study, we aimed to identify regional differences in the diagnostic rates for A1AT deficiency in the western Canadian provinces of British Columbia (BC) and Alberta (AB).The number of A1AT deficiency ...
Mathew P Estey +2 more
exaly +3 more sources
Journal of Oral Biosciences
Rheumatoid arthritis (RA) is an autoimmune disease characterized by progressive joint destruction. Early diagnosis and treatment, before joint deformation or destruction occurs, are crucial. Identifying novel biomarkers for RA in saliva could potentially enable early detection of the disease, prior to its onset.We conducted a comprehensive proteomic ...
Wakako Sakaguchi +2 more
exaly +3 more sources
Rheumatoid arthritis (RA) is an autoimmune disease characterized by progressive joint destruction. Early diagnosis and treatment, before joint deformation or destruction occurs, are crucial. Identifying novel biomarkers for RA in saliva could potentially enable early detection of the disease, prior to its onset.We conducted a comprehensive proteomic ...
Wakako Sakaguchi +2 more
exaly +3 more sources
Fibromyalgia, mood disorders, and intense creative energy: A1AT polymorphisms are not always silent
NeuroToxicology, 2012Persons with single copies of common alpha-1-antitrypsin polymorphisms such as S and Z are often considered "silent carriers". Published evidence however supports a complex behavioral phenotype or trait - intense creative energy ("ICE")-associated with A1AT polymorphisms. We now confirm that phenotype and present an association of fibromyalgia syndrome
Donald E, Schmechel +1 more
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Objectives: This study investigated the association of alpha-1-antrypsin deficiency (A1AT; S and Z polymorphisms) with HIV-1 and HTLV-1 infection. Methods: Blood samples from 201 HIV-1-infected and 115 HTLV-1-infected individuals were examined and ...
Thalita Camelo da Silva Ferreira +2 more
exaly +2 more sources
American Journal of Respiratory and Critical Care Medicine
Abstract Rationale: Alpha-1 Antitrypsin (A1AT) deficiency is a rare genetic disorder caused by mutations in the SERPINA1 gene, resulting in insufficient levels of functional A1AT protein. This deficiency results in unregulated neutrophil elastase activity in the lung, damaging pulmonary histoarchitecture and causing pathological ...
J. Chen +18 more
openaire +1 more source
Abstract Rationale: Alpha-1 Antitrypsin (A1AT) deficiency is a rare genetic disorder caused by mutations in the SERPINA1 gene, resulting in insufficient levels of functional A1AT protein. This deficiency results in unregulated neutrophil elastase activity in the lung, damaging pulmonary histoarchitecture and causing pathological ...
J. Chen +18 more
openaire +1 more source
Comparative Biochemistry and Physiology A, Comparative Physiology, 1991
Abstract 1. 1. The diurnal changes in the glucose level and in activity of FDPA, A1AT and AspAT in four pregnant standard-bred mares were studied. 2. 2. As a control four barren mares, were kept and examined in the same conditions. 3. 3. Blood samples were taken every 4hr for one day, each month, throughout pregnancy, or one year.
Anna FlisiŃska-Bojanowska, J Gill
exaly +2 more sources
Abstract 1. 1. The diurnal changes in the glucose level and in activity of FDPA, A1AT and AspAT in four pregnant standard-bred mares were studied. 2. 2. As a control four barren mares, were kept and examined in the same conditions. 3. 3. Blood samples were taken every 4hr for one day, each month, throughout pregnancy, or one year.
Anna FlisiŃska-Bojanowska, J Gill
exaly +2 more sources
Alpha-1-antitrypsin (A1AT) serum concentration in newborns is susceptible to diurnal variations
European Respiratory Journal, 2013Laboratory evaluation of A1AT deficiency involves measurement of circulating A1AT protein (quantitation) and characterization of A1AT genetic polymorphisms. In contrast to adult and pediatric populations, there are no reliably documented A1AT serum reference ranges for newborns available.
Joanna Chorostowska-Wynimko +3 more
openaire +1 more source

