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Organization of Screening Laboratories

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Neonatal Screening for Inborn Errors of Metabolism

Abstract

Screening of newborns for metabolic errors has been carried out on a national basis in the Republic of Ireland. The organisational aspects were presented in Heidelberg in 1969 (Cahalane 1971), and the basic structure has remained unchanged. Microbiological inhibition assays for methionine, tyrosine, leucine and galactose have been added to the initial phenylalanine test. Some 67 000 births occur in the country each year, most of them in hospital, and the compliance rate is almost 100%. The total number of infants screened and the detection rates are shown in Table 1.

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References

  • Cahalane SF (1971) Screening programmes — organisations. In: Bickel H, Hudson FP, Woolf LJ (eds) Phenylketonuria and some inborn errors of amino acid metabolism. Thieme, Stuttgart, p 155

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  • Starfield B, Holzell NA (1975) A comparison of effectiveness of screening for phenylketonuria in the United States, United Kingdom and Ireland. N Engl J Med 293:118–121

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© 1980 Springer-Verlag Berlin Heidelberg

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Cahalane, S.F. (1980). Organization of Screening Laboratories. In: Bickel, H., Guthrie, R., Hammersen, G. (eds) Neonatal Screening for Inborn Errors of Metabolism. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-67488-4_31

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  • DOI: https://doi.org/10.1007/978-3-642-67488-4_31

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-67490-7

  • Online ISBN: 978-3-642-67488-4

  • eBook Packages: Springer Book Archive

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