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Epidemiology of alpha 1 anti trypsin deficiency in the netherlands


, : Epidemiology of alpha 1 anti trypsin deficiency in the netherlands. Human Genetics 53(3): 409-414

During a 3 yr period, newborns in the eastern part of the Netherlands were investigated for.alpha.1-antitrypsin deficiency. Electroimmunoassay was used for screening, followed by Pi typing in suspected cases. In all, 95,033 newborns were screened, and a mean frequency of deficiency (phenotypes PiZ, PiSZ and PiS) of 8.00 in 10,000 was found. The distribution of deficient Pi types over the area was remarkably uneven, Pi type Z being more predominant north and Pi type S south of the Rhine.

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Related references

Gadek J.E.; Hunninghake G.W.; Fells G.A.; Zimmerman R.L.; Keogh B.A.; Crystal R.G., 1981: Validation of the alpha 1 anti trypsin hypothesis recovery of active connective tissue specific proteases from the lung of alpha 1 anti trypsin deficiency patients and reversal with alpha 1 anti trypsin replacement therapy. Clinical Research 29(2): 550A

Mowat A.P.; Sacharopoulos H.; Williams R.; Portmann B.; Tait R.A.J., 1977: Prognosis in childhood of liver disease associated with alpha 1 anti trypsin deficiency type piz alpha 1 anti trypsin deficiency. Gut 18(11): A978

Rasche B.; Marcic I., 1973: Long term investigations of the alpha 1 anti trypsin content and inhibiting capacity of the serum in patients with alpha 1 anti trypsin deficiency. Pneumonologie 149(2): 157-166

Janoff A., 1974: Degradation of human alpha 1 anti trypsin by hepatocyte acid cathepsins possible role in clinical alpha 1 anti trypsin deficiency. American Review Of Respiratory Disease: 263-272

Hammersten J.F., 1978: Epidemiology of bronchitis and emphysema in a rural area with special reference to alpha 1 anti trypsin deficiency. British Journal of Diseases of the Chest 72(2): 162-163

Fagerhol M., 1972: Production and retention of alpha 1 anti trypsin in the liver of individuals with alpha 1 anti trypsin deficiency in the serum. Scandinavian Journal Of Immunology: 418

Clausen P.P.; Lindskov J.; Gad I.; Kreutzfeldt M.; Orholm M.; Reinicke V.; Ring Larsen H.; Strom P., 1982: The diagnostic value of alpha 1 anti trypsin globules as a morphological marker of alpha 1 anti trypsin deficiency. Liver 2(3 PART 2): 299

Makino S., 1973: Alpha 1 anti trypsin deficiency a variant with no detectable alpha 1 anti trypsin. Pediatric Research: 343-115

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Klasen E.C.; Van Der Linde P.C.G., 1982: 2 peptides released in the complex formation of alpha 1 anti trypsin with beta trypsin evidence for 2 structurally identical inhibitory sites in alpha 1 anti trypsin. The exact mechanism of action of .alpha.1-antitrypsin, the major protease inhibitor in human serum, is still unknown. Several investigators report the release of a small peptide during complex formation of .alpha.1-antitrypsin with various proteas...