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Journal of Inherited Metabolic Disease

, Volume 9, Supplement 1, pp 142–146 | Cite as

Neonatal screening programme for congenital adrenal hyperplasia in a homogenous Caucasian population

  • E. Cacciari
  • A. Balsamo
  • A. Cassio
  • S. Piazzi
  • F. Bernardi
  • S. Salardi
  • A. Cicognani
  • P. Pirazzoli
  • F. Zappulla
  • M. Capelli
  • M. Paolini
  • C. I. Cordaro
Large Scale Pilot Studies

Keywords

Public Health Internal Medicine Metabolic Disease Screening Programme Caucasian Population 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

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  2. Cacciari, E., Balsamo, A., Cassio, A., Piazzi, S., Bernardi, F., Salardi, S., Cicognani, A., Pirazzoli, P., Zappulla, F., Capelli, M. and Paolini, M. Neonatal screening for congenital adrenal hyperplasia using a microfilter paper method for 17α-hydroxyprogesterone radioimmunoassay. Experience gained from the study of 22 233 cases.Horm. Res. 16 (1982) 4–9Google Scholar
  3. Cacciari, E., Balsamo, A., Cassio, A., Piazzi, S., Bernardi, F., Salardi, S., Cicognani, A., Pirazzoli, P., Zappulla, F., Capelli, M. and Paolini, M. Neonatal screening for congenital adrenal hyperplasia.Arch. Dis. Child. 58 (1983) 803–806Google Scholar
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  7. Hirschfield, A. J. and Fleshman, J. K. An unusually high incidence of salt-losing congenital adrenal hyperplasia in the Alaskan Eskimo.J. Pediatr. 75 (1969) 492–494Google Scholar
  8. Hubble, D. Congenital adrenal hyperplasia. In Holts, K. S. and Raine, D. N. (eds.) Basic Concepts of Inborn Errors and Defects of Steroid Biosynthesis,Proceedings of the 3rd Symposium Society for the Study of Inborn Errors of Metabolism, Livingstone, Edinburgh, 1966, pp. 68–75Google Scholar
  9. Levine, L. S., Zachmann, M. and New, M. I. Genetic mapping of the 21-hydroxylase-deficiency gene within the HLA linkage group.N. Engl. J. Med. 299 (1978) 911–915Google Scholar
  10. Natoli, G., Angeloni, P., Costa, F., Pausa, G., Moschini, L., Stara, B., Maggioni, G. Neonatal screening for 21-hydroxylase deficiency congenital adrenal hyperplasia: our experience on 94 121 newborns. Satellite Symposium, 7th International Congress of Endocrinology, 1984, New York (In press)Google Scholar
  11. New, M. I., Lorenzen, F., Pang, S., Gunczler, P., Dupont, D., and Levine, L. S. ‘Acquired’ adrenal hyperplasia with 21-hydroxylase deficiency is not the same genetic disorder as congenital adrenal hyperplasia.J. Clin. Endocrinol. Metab. 48 (1979) 356–369Google Scholar
  12. Pang, S., Hotchkiss, J., Drash, A. L., Levine, L. S. and New, M. I. Microfilter paper method for 17α-hydroxyprogesterone radioimmunoassay: its application for rapid screening for congenital adrenal hyperplasia.J. Clin. Endocrinol. Metab. 45 (1977) 1003–1008Google Scholar
  13. Pang, S., Murphy, W. and Levine, L. S. A pilot newborn screening for congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency at New York Hospital and Alaska. 1st Joint Meeting LWPES-ESPE, Geneva, 1981Google Scholar
  14. Piazzi, S., Capelli, M., Paolini, M., Perugini, D., Grossi, G., Balsamo, A., Salomoni, P., Cassio, A., Bugiardini, G. and Cacciari, E. Neonatal screening for 21-hydroxylase deficiency: a microfilter paper method for 17α-hydroxyprogesterone assay.J. Endocrinol. Invest. 5 (1982) 87–90Google Scholar
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Copyright information

© SSIEM and MTP Press Limited 1986

Authors and Affiliations

  • E. Cacciari
    • 1
  • A. Balsamo
    • 1
  • A. Cassio
    • 1
  • S. Piazzi
    • 2
  • F. Bernardi
    • 1
  • S. Salardi
    • 1
  • A. Cicognani
    • 1
  • P. Pirazzoli
    • 1
  • F. Zappulla
    • 1
  • M. Capelli
    • 2
  • M. Paolini
    • 2
  • C. I. Cordaro
    • 1
  1. 1.2nd Pediatric ClinieUniversity of Bologna, S. Orsola HospitalBolognaItaly
  2. 2.Central LaboratoryUniversity of Bologna, S. Orsola HospitalBolognaItaly

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