Results 11 to 20 of about 14,550 (189)
ALPHA-1-ANTITRYPSIN DEFICIENCY IN CHILDREN
Медицинский совет, 2017 Hereditary deficiency of the alpha-1-antitrypsin occupies a leading position among the causes of chronic nonspecific lung diseases with emphysema formation.S. I. MELNIK, M. V. PINEVSKAYA, E. A. ORLOVA, S. V. STAREVSKAYA, I. Y. MELNIKOVA, V. I. LARIONOVA +5 moredoaj +3 more sourcesPROINFLAMMATORY CYTOKINE PROFILE IN PATIENTS WITH DIFFERENT ALPHA-1-ANTITRYPSIN PHENOTYPES
Медицинская иммунология, 2016 Alpha-1-antitrypsin (A1AT) exerts a wide spectrum of protective effects, being focused on reduction of secondary injury in inflammation. Moreover, A1AT inhibits some serine proteases, and down-regulates production of proinflammatory cytokines.M. Yu. Pervakova, S. V. Lapin, E. A. Surkova, O. Yu. Tkachenko, A. I. Budkova, V. I. Guseva, O. N. Titova, V. L. Emanuel, Areg A. Totolian +8 moredoaj +1 more sourceCausal and Synthetic Associations of Variants in the SERPINA Gene Cluster with Alpha1-antitrypsin Serum Levels [PDF]
, 2013 Several infrequent genetic polymorphisms in the SERPINA1 gene are known to substantially reduce concentration of alpha1-antitrypsin (AAT) in the blood.Marjo-Riitta Jarvelin, Kronenberg, F, Ma'en Obeidat, M. Dahl, Gian Andri Thun (449467), Caroline Hayward (149856), Ferrarotti, Ilaria, I. J. Deary (7620122), Ma'en Obeidat (110232), J. F. Wilson, Gyllensten, U, B. G. Nordestgaard (7605362), Tobin, MD, Thierry Rochat, Igor Rudan (150101), Y. Bossé (7628753), Alexander Teumer (112757), Ferrarotti, I, Børge G. Nordestgaard (89871), H. Schulz (3516554), Andrew J. Sandford (301863), M. Imboden (3809185), L. M. Lopez (7628747), C. Hayward (7609304), J. Hui (6291092), Obeidat, Ma'en, Huffman, JE, M. Jarvelin, M. D. Tobin, Strachan, David P, O. Polasek, Bossé, Y, Schulz, H, M. Zorzetto (7628732), Huffman, Jennifer E., Hui, J., A. Kumar (664258), A. J. Sandford (7628759), Ian J. Deary (107724), Haun, M., Reischl, E., Hayward, C., Victoria E. Jackson (449468), Alexessander Couto Alves, A. Teumer (7609454), Thun, Gian Andri, J. S. Ried, Nordestgaard, Borge G, Sandford, Andrew J., Fallgaard Nielsen, S., E. W. Russi, Haun, M, S. Enroth, K. Hao (7628756), M. Obeidat, T. Rochat, Probst-Hensch, Nicole M, M. Obeidat (7628729), J. F. Wilson (7605311), I. Curjuric (3809209), E. Albrecht, Timens, Wim, Deary, Ian J, E. Reischl, Kronenberg, Florian, Timens, W., Enroth, S., Ozren Polasek, David P Strachan, Imboden, M., Reischl, E, Couto Alves, A., S. Fallgaard Nielsen (7628780), Nordestgaard, Børge G., Ashish Kumar (152984), Holger Schulz (13022), Haun, Margot, Jarvelin, Marjo-Riitta, Andrew J Sandford, Beate Koch (110151), D. P. Strachan (3809152), M. Dahl (7628777), Janina S Ried, S. F. Nielsen, Koch, B., T. Rochat (7628768), Ian P. Hall (110307), Lopez, Lorna M., Kumar, A, Zorzetto, M., Morten Dahl (250510), Curjuric, I., K. Hao, Enroth, Stefan,, Curjuric, Ivan, Luisetti, M, James, A.L., B. Koch (3565709), Jennifer E Huffman, Ke Hao (50181), Rochat, T, N. M. Probst Hensch, Gyllensten, Ulf,, I. Rudan, Strachan, David P., Jarvelin, M.R., Enroth, Stefan, Jennifer E. Huffman (220403), Florian Kronenberg (87557), Maurizio Luisetti (142908), Nielsen, Sune Fallgaard, Michele Zorzetto (142902), Alan L. James (174634), Wilson, J.F., Jackson, VE, M. Luisetti (7628783), Obeidat, M., Couto Alves, A, James, Alan L, Lorna M Lopez, Stefan Enroth (189126), Florian Kronenberg, Deary, IJ, Dahl, Morten, Ashish Kumar, Bossé, Y., Erich W. Russi (142906), Lopez, L.M., Timens, W, Alan L James, Imboden, Medea, Ried, Janina S, Gyllensten, U., I. Curjuric, Schulz, Holger, Wim Timens (41871), Ried, J.S., Enroth, S, Luisetti, Maurizio, I. Rudan (7609409), A. J. Sandford, James F Wilson, Ivan Curjuric (110179), Wilson, James F; id_orcid, J. S. Ried (7628744), Huffman, Jennifer E, E. W. Russi (7628771), Morten Dahl, Probst-Hensch, NM, G. A. Thun (7628723), Medea Imboden (110145), Y. Bossé, Sune Fallgaard Nielsen (449470), Teumer, Alexander, Tobin, M.D., Gian Andri Thun, Kronenberg, F., Caroline Hayward, C. Hayward, Eva Albrecht (174584), Børge G Nordestgaard, Albrecht, E., I. P. Hall, Fallgaard Nielsen, Sune, Luisetti, M., U. Gyllensten, Bosse, Yohan, Deary, I.J., L. M. Lopez, Eva Reischl (449469), Russi, Erich W., E. Reischl (7628762), F. Kronenberg, Ulf Gyllensten, Margot Haun (102627), Strachan, D.P., Probst-Hensch, Nicole M., M. Haun, Hao, Ke, I. J. Deary, Jackson, Victoria E, Erich W Russi, Hall, Ian P, Rochat, Thierry, Hall, I.P., James, AL, Wilson, James, Rudan, Igor, Nicole M. Probst-Hensch (110284), Medea Imboden, Ivan Curjuric, Huffman, J.E., Jackson, V.E., Nordestgaard, BG, Ilaria Ferrarotti (142893), W. Timens, Curjuric, I, B. G. Nordestgaard, M. R. Jarvelin (7611464), Lorna M. Lopez (107685), Fallgaard Nielsen, S, Ferrarotti, I., Victoria E Jackson, J. Hui, Wilson, James F, Hayward, Caroline, A. Couto Alves (7628738), Thun, G.A., Lopez, LM, Koch, B, Jennie Hui, M. Haun (7628735), Hao, K, Sandford, AJ, Michele Zorzetto, Gyllensten, Ulf, Ke Hao, Ian J Deary, Tobin, Martin D, D. P. Strachan, Rochat, T., Reischl, Eva, Probst-Hensch, N.M., A. L. James (7628765), Alexessander Couto Alves (131470), Jennie Hui (220409), Hao, K., Kumar, Ashish, Dahl, M., Eva Albrecht, V. E. Jackson, Sune Fallgaard Nielsen, S. Enroth (7626632), V. E. Jackson (7628741), Teumer, A., Maurizio Luisetti, O. Polasek (7609424), Martin D Tobin, Marjo-Riitta Jarvelin (110290), A. Teumer, Jackson, Victoria E., Wim Timens, Nordestgaard, Børge G, U. Gyllensten (7612145), James F. Wilson (150146), Imboden, M, A. L. James, Hui, Jennie, Teumer, A, Nordestgaard, Borge G., Zorzetto, Michele, Ian P Hall, Nicole M Probst-Hensch, Polasek, Ozren, Hui, J, Alexander Teumer, H. Schulz, Sandford, Andrew J, Polasek, O., Jarvelin, MR, N. M. Probst-Hensch (7628786), Ried, Janina S., Ried, JS, Russi, Erich W, Albrecht, E, Hall, IP, A. C. Alves, Koch, Beate, David P. Strachan (110302), Stefan Enroth, B. Koch, Margot Haun, Gibson, Greg, J. E. Huffman, Russi, E.W., G. A. Thun, Obeidat, M, Rudan, I., Schulz, H., Wilson, JF, Russi, EW, Lopez, Lorna M, A. Kumar, Alves, Alexessander Couto, Wilson, James F., Rudan, I, Holger Schulz, F. Kronenberg (7611272), Dahl, M, E. Albrecht (7612112), Ulf Gyllensten (13773), Couto Alves, Alexessander, Deary, Ian J., Beate Koch, Ozren Polasek (3965693), Kumar, A., Thun, GA, Nørdestgaard, B.G., Thierry Rochat (110261), Albrecht, Eva, J. E. Huffman (7628750), Zorzetto, M, Hayward, C, Yohan Bossé (69571), Sandford, A.J., Ilaria Ferrarotti, Hall, Ian P., M. D. Tobin (7602575), Tobin, Martin D., I. Ferrarotti (7628726), James, Alan L., Strachan, DP, Yohan Bossé, Hayward, Caroline; id_orcid, Timens, Wim; id_orcid, W. Timens (3948230), Martin D. Tobin (110311), Polasek, O, M. Zorzetto, M. Imboden, Igor Rudan, Eva Reischl, Janina S. Ried (200003), I. P. Hall (7628774) +323 morecore +1 more sourceAlpha-1-antitrypsin deficiency [PDF]
, 2022 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, Dichmann de Vos, Jesper, Wilcke, Jon Torgny, Perch, Michael, Løkke Ottesen, Anders, Hilberg, Ole +5 morecore +2 more sourcesAlpha1 antitrypsin deficiency due to an homozygous PI* Null Q0Cairo mutation: Early onset of pulmonary manifestations and variability of clinical expression
Respiratory Medicine Case Reports, 2018 Alpha-1 antitrypsin deficiency is an autosomal, codominant disorder caused by mutations of the SERPINA1 gene. This genetic disorder is mainly associated with development of pulmonary emphysema and/or chronic liver disease and cirrhosis.Here we report a ...Zineb Jouhadi, Marie Francoise Odou, Farid Zerimech, Ahmed Aziz Bousfiha, Nabiha Mikou, Nicole Porchet, Michel Crepin, Jilali Najib, Malika Balduyck +8 moredoaj +1 more source
