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Abstract

Screening programs for the detection of phenylketonuria (PKU) in newborns are now so widespread and the benefits to society at large so generally accepted that any developed country without a PKU screening program might be regarded as not having achieved the best possible standard of preventive medical care.

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References

  • Ambrose JA, Ross C, Whitfield F (1967) An ultramicro automated method (auto analyzer) for the fluorometric determination of phenylalanine. Tech Symp 1:13

    Google Scholar 

  • Bickel H, Gerrard J, Hickmans EM (1954) The influence of phenylalanine intake on the chemistry and behaviour of a phenylketonuric child. Acta Paediat 43:64

    Article  CAS  Google Scholar 

  • Bush JW, Chen MM, Patrick DL (1973) Health status index in cost effectiveness: Analysis of PKU program. In: Berg RL (ed) Health status indexes. Hospital Research and Educational Trust, pp 172–209

    Google Scholar 

  • Cabalska B, Duczynska N, Borzymowska J, Zorska K, Koslacz-Folga A, Bozkowa K (1977) Termination of dietary treatment in phenylketonuria. Eur J Paediatr 126:253–262

    Article  CAS  Google Scholar 

  • Cowie VA (1951) An atypical case of phenylketonuria. Lancet 1:272

    Article  PubMed  CAS  Google Scholar 

  • Curtius HC, Niederwieser A, Viscontini M, Otten A, Schaub J, Scheibenreiter S, Schmidt H (1979). Atypical phenylketonuria due to tetrahydrobiopterin deficiency. Diagnosis and treatment with tetrahydrobiopterin, dihydrobiopterin and sepiaterin. Clin Chim Acta 93:251–262

    Article  PubMed  CAS  Google Scholar 

  • Efron ML, Young D, Moser HW, MacCready RA (1964) A simple chromatographic screening test for the detection of disorders of amino acid metabolism. A technique using whole blood or urine collected on filter paper. Engl J Med 270:1378

    Article  CAS  Google Scholar 

  • Forssman H, Akesson HO (1970) Mortality of the mentally deficient: A study of 12903 institutionalised subjects. J Ment Defic Res 14:276–294

    PubMed  CAS  Google Scholar 

  • Guthrie R, Susi A (1963) A simple phenylalanine method for the detection of phenylketonuria in large populations of newborn infants. Pediatrics 32:338

    PubMed  CAS  Google Scholar 

  • Lang K (1955) Phenylpyruvic oligophrenia. Erg Inn Med Kinderheilkd 6:78–99

    CAS  Google Scholar 

  • McCaman MW, Robins E (1962) Fluorimetric method for the determination of phenylalanine in serum. J Lab Clin Med 59:885

    CAS  Google Scholar 

  • Smith I, Clayton BE, Wolff OH (1975) New variant of phenylketonuria with progressive neurological illness unresponsive to phenylalanine restriction. Lancet 1:1108

    Article  PubMed  CAS  Google Scholar 

  • Smith I, Lobascher ME, Stevenson JE, Wolff OH, Schmid H, Grubel-Kaiser S, Bickel H (1978) Effect of stopping low phenylalanine diet on intellectual progress of children with phenylketonuria. Br Med J 2:723–726

    Article  PubMed  CAS  Google Scholar 

  • Trefz FK, Bartholome K, Bickel H, Lutz P, Schmidt H (1978) In vivo determination of phenylalanine hydroxylase activity using heptadeutero — phenylalanine and comparison to the in vitro assay values. Monogr Hum Genet 9:108–113

    PubMed  CAS  Google Scholar 

  • Watson BM, Schlesinger P, Cotton RGH (1977) Dihydroxanthopterinuria in phenylketonuria and lethal hyperphenylalaninemia patients. Clin Chim Acta 78:417

    Article  PubMed  CAS  Google Scholar 

  • WHO (1968) techn Rep Ser 401:7

    Google Scholar 

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© 1980 Springer-Verlag Berlin Heidelberg

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Veale, A.M.O. (1980). Screening for Phenylketonuria. 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_2

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  • DOI: https://doi.org/10.1007/978-3-642-67488-4_2

  • 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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