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Journal Abstract Search

163 related items for PubMed ID: 601515

  • 21.
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  • 24. Differential diagnosis of hyperphenylalaninaemia by a combined phenylalanine-tetrahydrobiopterin loading test.
    Ponzone A, Guardamagna O, Spada M, Ferraris S, Ponzone R, Kierat L, Blau N.
    Eur J Pediatr; 1993 Aug; 152(8):655-61. PubMed ID: 8404969
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  • 28. "Hypotyrosinemia" in phenylketonuria.
    Hanley WB, Lee AW, Hanley AJ, Lehotay DC, Austin VJ, Schoonheyt WE, Platt BA, Clarke JT.
    Mol Genet Metab; 2000 Apr; 69(4):286-94. PubMed ID: 10870846
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  • 29. Non-phenylketonuria hyperphenylalaninaemia in Northern Ireland: frequent mutation allows screening and early diagnosis.
    Zschocke J, Graham CA, Stewart FJ, Carson DJ, Nevin NC.
    Hum Mutat; 1994 Apr; 4(2):114-8. PubMed ID: 7981714
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  • 30. Assessment of mitochondrial respiratory chain function in hyperphenylalaninaemia.
    Kyprianou N, Murphy E, Lee P, Hargreaves I.
    J Inherit Metab Dis; 2009 Apr; 32(2):289-96. PubMed ID: 19277893
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  • 31. 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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  • 32. Fluorometric measurement of tyrosine in serum and plasma.
    Ambrose JA.
    Clin Chem; 1974 Apr; 20(4):505-10. PubMed ID: 4818207
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  • 33. Standardized loading test with protein for the differentiation of phenylketonuria from hyperphenylalaninaemia.
    Lutz P, Schmidt H, Frey G, Bickel H.
    J Inherit Metab Dis; 1982 Apr; 5(1):29-35. PubMed ID: 6820410
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  • 35. Optimal serum phenylalanine for adult patients with phenylketonuria.
    Okano Y, Nagasaka H.
    Mol Genet Metab; 2013 Dec; 110(4):424-30. PubMed ID: 24094552
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  • 36. Gas-liquid chromatography of phenylalanine and its metabolites in serum and urine of various hyperphenylalaninemic subjects, their relatives, and controls.
    Kitagawa T, Smith BA, Brown ES.
    Clin Chem; 1975 May; 21(6):735-40. PubMed ID: 1122617
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  • 37. On indications for treatment of the hyperphenylalaninemic neonate.
    Güttler F, Wamberg E.
    Acta Paediatr Scand; 1977 May; 66(3):339-44. PubMed ID: 868515
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  • 38. The assessment of serum amino acids.
    Swallow WH, Carrell RW.
    N Z Med J; 1970 Feb; 71(453):85-8. PubMed ID: 5267129
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  • 39. Newborn phenylalanine/tyrosine metabolism. Implications for screening for phenylketonuria.
    Schneider AJ.
    Am J Dis Child; 1983 May; 137(5):427-32. PubMed ID: 6846269
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  • 40. The Effects of Breastfeeding in Infants With Phenylketonuria.
    Kose E, Aksoy B, Kuyum P, Tuncer N, Arslan N, Ozturk Y.
    J Pediatr Nurs; 2018 May; 38():27-32. PubMed ID: 29167077
    [Abstract] [Full Text] [Related]

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