Skip to main content
Have a personal or library account? Click to login
Alpha 1-atitrypsin deficiency: from genetic routes to bedside Cover

Alpha 1-atitrypsin deficiency: from genetic routes to bedside

Proceedings of the Latvian Academy of Sciences. Section B. Natural, Exact, and Applied Sciences.
Volume 63 (2009): Issue 3 (June 2009)
By: ,  ,   and    
Open Access
|Nov 2009
References

References

  1. Anonymous (1997). A1AT deficiency: Memorandum from WHO meeting., 397-415.
    Search in Google Scholar
  2. Beckman, G., Beckman, L., Nordenson, I. (1980). Alpha 1-antitrypsin phenotypes in Northern Sweden., 129-135.
    Open DOISearch in Google Scholar
  3. Beckman, L., Ambrasiene, D., Krumina, A., Kucinskas, V., Mikelsaar, A.V., Sikstrom, C. (1999). A1AT (PI) alleles as markers of West European influence in the Baltic Sea region., 52-55.
    Open DOISearch in Google Scholar
  4. Berg, N.O., Eriksson, S. (1972). Liver disease in adults with alpha-1-antitrypsin deficiency.,, 1265-1267.
    Open DOISearch in Google Scholar
  5. Blanco, I., Fernandez, E., Bustillo, E.F. (2001). Alpha-1-antitrypsin PI phe-notypes S and Z in Europe: An analysis of the published surveys.,, 31-41.
    Open DOISearch in Google Scholar
  6. Bowlus, C.L., Willner, I., Zern, M.A., Rauben, A., Chen, P. et al. (2005). Factors associated with advanced liver disease in adults with alpha1-antitrypsin deficiency.(4), 390-396.
    Open DOISearch in Google Scholar
  7. Brantly, M.L., Wittes, J.T., Vogelmeier, C.F., Hubbard, R.C., Fells, G.A. (1991). Use of a highly purified alpha 1-antitrypsin standard to establish ranges for the common normal and deficient alpha 1-antitrypsin pheno-types.(3), 703-708.
    Open DOISearch in Google Scholar
  8. Byth, B.C., Billingsley, G.D., Cox, D.W. (1994). Physical and genetic mapping of the serpin gene cluster at 14q32.1: Allelic association and a unique haplotype associated with alpha 1-antitrypsin deficiency.,, 126-133.
    Search in Google Scholar
  9. Callea, F., Gregorini, G., Sinico, A. (1997). Alpha 1-antitrypsin deficiency and ANCA-positive systemic vasculitis: Genetic and clinical implications.,(8), 696-702.
    Open DOISearch in Google Scholar
  10. Carrell, R.W., Lomas, D.A. (2002). Alpha-1-antitrypsin deficiency — a model for conformational diseases., 45-53.
    Open DOISearch in Google Scholar
  11. Cox, D.W., Billingsley, G.D., Mansfield, T. (1987). DNA restriction site polymorphisms associated with the alpha 1-antitrypsin gene.,, 891-906.
    Search in Google Scholar
  12. Cox, D.W., Woo, S.L., Mansfield, T. (1985). DNA restriction fragments associated with alpha1-antitrypsin indicate a single origin for deficiency allele PIZ.,, 79-81.
    Open DOISearch in Google Scholar
  13. Dirksen, A., Dijkman, J.H., Madsen, F., Stoel, B., Hutchison, D.C.S., et al. (1999). A randomized clinical trial of alpha antitrypsin augmentation therapy.,, 1468-1472.
    Open DOISearch in Google Scholar
  14. Elliot, P.R., Bilton, D., Lomas, D.A. (1998). Lung polymers in Z A1AT deficiency related Emphysema.,(5), 670-674.
    Open DOISearch in Google Scholar
  15. Eriksson, S. (1989). Alpha 1-antitrypsin deficiency: Lessons learned from the bedside to the gene and back again. Historic perspectives.,(1), 181-189.
    Search in Google Scholar
  16. Ferguson, G.T. (2000). Update on pharmacologic therapy for chronic obstructive pulmonary disease.(4), 723-738.
    Open DOISearch in Google Scholar
  17. Hutchison, D.C. (1998). Alpha-1-antitrypsin deficiency in Europe: Geographical distribution oftypes S and Z.,, 367-377.
    Open DOISearch in Google Scholar
  18. Lace, B., Sveger, T., Krams, A., Cernevska, G., Krumina, A. (2008). Age ofgeneZ mutation: Swedish and Latvian population analysis.,, 300-304.
    Open DOISearch in Google Scholar
  19. Lai, E.C., Kao, F.T., Law, M.L., Woo, S.L. (1983). Assignment of the alpha 1-antitrypsin gene and a sequence-related gene to human chromosome 14 by molecular hybridization.,(3), 385-392.
    Search in Google Scholar
  20. Laurell, C.B., Eriksson, S. (1965). The serum alpha-l-antitrypsin in families with hypo-alpha-l-antitrypsinemia.,, 395-398.
    Open DOISearch in Google Scholar
  21. Lomas, D.A., Mahadeva, R. (2002). Alpha1-antitrypsin polymerization and the serpinopathies: Pathobiology and prospects for therapy.,(11), 1585-1590.
    Open DOISearch in Google Scholar
  22. Long, G.L., Chandra, T., Woo, S.L.C., Davie, E.W., Kurachi, K. (1984). Complete sequence of the cDNA for Human alpha-antitrypsin and the gene for the S variant.,, 4828-4837.
    Open DOISearch in Google Scholar
  23. Lopez, A.D., Murray, C.C. (1998). The global burden of disease, 1990-2020.,(11), 1241-1243.
    Open DOISearch in Google Scholar
  24. Luisetti, M., Seersholm, N. (2004). Alpha1-antitrypsin deficiency. 1: Epidemiology of alpha1-antitrypsin deficiency.,(2), 164-169.
    Search in Google Scholar
  25. Mayer, A., Stoller, J.K., Bartelson, B.B., Rutteber, A.J., Sandhaus, R.A. et al. (2000). Occupational exposure risks in individuals withZ į-antitrypsin deficiency.,, 553-558.
    Open DOISearch in Google Scholar
  26. Nukiwa, T., Satoh, K., Brantly, M.L., Ogushi, F., Fells, G.A., Courtney, M. et al. (1986). Identification of a second mutation in the protein-coding sequence of the Z type alpha 1-antitrypsin gene.,(34), 15989-15994.
    Open DOISearch in Google Scholar
  27. Permutter, D.H. (1998). Alpha 1-antitrypsin deficiency.,(3), 217-225.
    Open DOISearch in Google Scholar
  28. Piitulainen, E., Sveger, T. (2002). Respiratory symptoms and lung function in young adults with severe A1AT deficiency.,(8), 705-708.
    Open DOISearch in Google Scholar
  29. Potempa, J., Korzus, E., Travis, J. (1994). The Serpin super family of protease inhibitors: Structure, functions and regulations.,(23), 15957-15960.
    Open DOISearch in Google Scholar
  30. Rannala, B., Bertorelle, G. (2001). Using linked markers to infer the age of a mutation.,, 87-100.
    Open DOISearch in Google Scholar
  31. Seersholm, N., Kok-Jensen, A. (1995). Survival in relation to lung function and smoking cessation in patients with severe hereditary alpha antitrypsin deficiency.,, 369-373.
    Open DOISearch in Google Scholar
  32. Seixas, S., Garcia, O., Trovoada, M.J., Santos, M.T., Amorim, A., Rosha, J. (2001). Patterns of haplotype diversity within the Serpin gene cluster at 14q32.1: Insights into the natural history of the alpha 1 antitrypsin polymorphism.,, 20-30.
    Open DOISearch in Google Scholar
  33. Strange, C., Stoller, J.K., Sandhaus, R.A., Dickson, R., Turino, G. (2006). Results of a survey of patients with alpha-1 antitrypsin deficiency.,(2), 185-190.
    Open DOISearch in Google Scholar
  34. Sveger, T., Eriksson, S. (1995). The liver in adolescents with alpha-1-antitrypsin deficiency.,(2), 514-517.
    Search in Google Scholar
  35. Sveger, T., Thelin, T. (2000). A future for neonatal Alpha 1-Antitrypsin screening?,, 259-261.
    Search in Google Scholar
  36. Sveger, T. (1976). Liver disease in alpha1-antitrypsin deficiency detected by screening of 200,000 infants.,, 1316-1321.
    Open DOISearch in Google Scholar
  37. Techman, J.H., Lindblad, D. (2006). Alpha-1-antitrypsin deficiency: Diagnosis, pathophysiology, and management.,(1), 14-20.
    Open DOISearch in Google Scholar
  38. Tobin, M.J., Cook, P.J.L., Hutchinson, C.S. (1983). Alpha 1-antitrypsin deficiency: The clinical and physiological features of pulmonary emphysema in subjects homozygous fortype Z.,(14), 14-27.
    Open DOISearch in Google Scholar
  39. Walker, M.B., Retzinger, A.C., Retzinger, G.S. (2006). A turbidimetric method for measuring the activity of trypsin and its inhibition.(1), 114-121.
    Open DOISearch in Google Scholar
  40. Wencker, M., Banik, N., Buhl, R., Seidel, R., Konietzko, N. (1998). Long term treatment of alpha antitrypsin deficiency-related pulmonary emphysema with human antitrypsin.,, 428-433.
    Open DOISearch in Google Scholar
  41. Wewers, M.D., Casolaro, A., Sellers, S., Swayze, S.C., McPhaul, K.M. et al. (1987). Replacement therapy for alpha-1-antitrypsin deficiency associated with emphysema.,, 1055-1062.
    Open DOISearch in Google Scholar
DOI: https://doi.org/10.2478/v10046-009-0027-4 | Journal eISSN: 2255-890X (formerly 1407-009X) | Journal ISSN: 1407-009X
Journal RSS Feed
Language: English
Page range: 81 - 86
Published on: Nov 6, 2009
Published by: Latvian Academy of Sciences
In partnership with: Paradigm Publishing Services
Keywords:
alpha 1-antitrypsin deficiency,
Z mutation
Related subjects:
Mathematics,
General mathematics

© 2009 Baiba Lāce, Alvils Krams, Didzis Pilāns, Astrīda Krūmiņa, published by Latvian Academy of Sciences
This work is licensed under the Creative Commons License.

Volume 63 (2009): Issue 3 (June 2009)
Previous article
Next article