Abstract
Using the data from screening done in Switzerland since 1965, we showed that the probability of finding cases with increased phenylalanine or leucine concentrations is compatible with a Poisson distribution. If there are no trends present from year to year and if the Poisson distribution is an accurate fit further statistical treatment is possible. The advantage of using the Poisson distribution is exemplified by the calculation of confidence limits for the incidence of hyperphenylalaninaemia, maple syrup urine disease and hypothyroidism. Furthermore, statistical comparisons between different screening programs are easily done.
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Diem, K. and Lentner, C., (eds.)Documenta Geigy, Scientific Tables, 7th edn, J. R. Geigy, Basel, 1970, pp. 107–108
Veale, A. M. O. Screening for phenylketonuria. In Bickel, H., Guthrie, R. and Hammersen, G. (eds.)Neonatal Screening for Inborn Errors of Metabolism, Springer Verlag, Berlin, 1980, p. 9
Naylor, E. W., Newborn screening for maple syrup urine disease (branched chain ketoaciduria). In Bickel, H., Guthrie, R. and Hammersen, G. (eds.)Neonatal Screening for Inborn Errors of Metabolism, Springer Verlag, Berlin, 1980, pp. 19–28
Sachs, L. (ed.) Vergleich der Mittelwerte von Poisson Verteilungen. InStatistische Auswertungsmethoden, 3rd edn, Springer Verlag, Berlin, 1972, pp. 151–153
Snedecor, G. W. and Cochran, W. G.Statistical Methods, 6th edn, Iowa State University Press, Ames, 1967, pp. 228–238
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Bachmann, C., Colombo, J.P. Incidence of disorders tested by systematic screening: Confidence limits and comparison of programmes. J Inherit Metab Dis 5, 3–5 (1982). https://doi.org/10.1007/BF01799746
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DOI: https://doi.org/10.1007/BF01799746