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Journal Abstract Search

126 related items for PubMed ID: 6790854

  • 1.
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  • 2. Intracellular concentrations of phenylalanine, tyrosine and alpha-aminobutyric acid in 13 homozygotes and 19 heterozygotes for phenylketonuria (PKU) compared with 26 normals.
    Thalhammer O, Pollak A, Lubec G, Königshofer H.
    Hum Genet; 1980; 54(2):213-6. PubMed ID: 7390492
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  • 4. Intracellular phenylalanine and tyrosine concentration in homozygotes and heterozygotes for phenylketonuria (PKU) and hyperphenylalaninemia compared with normals.
    Thalhammer O, Lubec G, Königshofer H, Scheibenreiter S, Coradello H.
    Hum Genet; 1982; 60(4):320-1. PubMed ID: 7106768
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  • 7. Heterozygote detection in phenylketonuria. Measurement of discriminatory ability and interpretation of the phenylalanine loading test by determination of the heterozygote likelihood ratio.
    Westwood A, Raine DN.
    J Med Genet; 1975 Dec; 12(4):327-33. PubMed ID: 1219115
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  • 8. Intracellular phenylalanine and tyrosine concentrations in 19 heterozygotes for phenylketonuria (PKU) and 26 normals. Do the higher values in heterozygotes explain their lowered intellectual level?
    Thalhammer O, Lubec G, Königshofer H.
    Hum Genet; 1979 Jul 18; 49(3):333-6. PubMed ID: 478540
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  • 9. Different phenotypes for phenylalanine hydroxylase deficiency.
    Güttler F, Hansen G.
    Ann Clin Biochem; 1977 May 18; 14(3):124-34. PubMed ID: 869488
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  • 10. Plasma phenylalanine and tyrosine levels during the day in normal female controls and female obligate phenylketonuria heterozygotes.
    De Groot CJ, Hommes FA.
    Enzyme; 1982 May 18; 28(4):404-7. PubMed ID: 7151779
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  • 14. Discriminant analysis for detection of phenylketonuric heterozygotes.
    Christian BG.
    Soc Biol; 1971 Mar 18; 18(1):64-72. PubMed ID: 5580588
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  • 15. [Method of detection of heterozygotic carrier state in phenylketonuria].
    Baikov AD, Sitnichenko EI.
    Lab Delo; 1973 Mar 18; 5():293-5. PubMed ID: 4129158
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  • 16. Serum tyrosine within the first hour after an oral load of phenylalanine.
    Güttler F, Hansen G.
    Scand J Clin Lab Invest; 1977 Dec 18; 37(8):717-21. PubMed ID: 601515
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  • 17. Discrimination of heterozygotes for phenylketonuria, persistent hyperphenylalaninemia and controls by phenylalanine loading.
    Blitzer MG, Bailey-Wilson JE, Shapira E.
    Clin Chim Acta; 1986 Dec 30; 161(3):347-52. PubMed ID: 3802540
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  • 19. Detection of phenylketonuric heterozygotes.
    Jackson SH, Hanley WB, Gero T, Gosse GD.
    Clin Chem; 1971 Jun 30; 17(6):538-43. PubMed ID: 5103385
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  • 20. [Detection of heterozygotes of typical phenylketonuria].
    Farriaux JP, Delabre M.
    Arch Fr Pediatr; 1972 Apr 30; 29(4):365-72. PubMed ID: 5053206
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