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Phenylalanine, tyrosine, biopterin and neopterin have been measured in serum from normal controls and heterozygotes for classical phenylketonuria, before and after a phenylalanine oral load. Significant differences in neopterin and biopterin mean values in fasting serum and in the mean increase of biopterin induced by the phenylalanine load were found between groups. Inclusion of pteridine data in the discriminant analysis significantly improved the resolution of the classical phenylalanine loading test for the detection of heterozygotes for phenylketonuria.<\/jats:p>","DOI":"10.1007\/bf00710298","type":"journal-article","created":{"date-parts":[[2004,12,1]],"date-time":"2004-12-01T12:15:16Z","timestamp":1101903316000},"page":"457-464","source":"Crossref","is-referenced-by-count":1,"title":["Improved identification of heterozygotes for phenylketonuria using blood neopterin and biopterin"],"prefix":"10.1002","volume":"16","author":[{"given":"T.","family":"Al\u00f3s","sequence":"first","affiliation":[{"name":"Unidad de Metabolopat\u00edas Hospital Universitario La Fe  Valencia 46009 Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y.","family":"Bel","sequence":"additional","affiliation":[{"name":"Departamento de Gen\u00e9tica, Facultad de Ciencias Biol\u00f3gicas Universitat de Val\u00e8ncia  Burjassot, C\/Dr Moliner 50 Valencia 46100 Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. 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