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Journal Abstract Search

211 related items for PubMed ID: 30047169

  • 1. Children and adolescents with phenylketonuria display fluctuations in their blood phenylalanine levels.
    Feldmann R, Schallert M, Nguyen T, Och U, Rutsch F, Weglage J.
    Acta Paediatr; 2019 Mar; 108(3):541-543. PubMed ID: 30047169
    [Abstract] [Full Text] [Related]

  • 2. Stability of blood phenylalanine levels and IQ in children with phenylketonuria.
    Anastasoaie V, Kurzius L, Forbes P, Waisbren S.
    Mol Genet Metab; 2008 Mar; 95(1-2):17-20. PubMed ID: 18703366
    [Abstract] [Full Text] [Related]

  • 3. Children and Adolescents with Early Treated Phenylketonuria: Cognitive Development and Fluctuations of Blood Phenylalanine Levels.
    Feldmann R, Och U, Beckmann LS, Weglage J, Rutsch F.
    Int J Environ Res Public Health; 2024 Apr 02; 21(4):. PubMed ID: 38673342
    [Abstract] [Full Text] [Related]

  • 4. Fluctuations in phenylalanine concentrations in phenylketonuria: a review of possible relationships with outcomes.
    Cleary M, Trefz F, Muntau AC, Feillet F, van Spronsen FJ, Burlina A, Bélanger-Quintana A, Giżewska M, Gasteyger C, Bettiol E, Blau N, MacDonald A.
    Mol Genet Metab; 2013 Dec 02; 110(4):418-23. PubMed ID: 24090706
    [Abstract] [Full Text] [Related]

  • 5. Neurocognitive functioning in adults with phenylketonuria: results of a long term study.
    Weglage J, Fromm J, van Teeffelen-Heithoff A, Möller HE, Koletzko B, Marquardt T, Rutsch F, Feldmann R.
    Mol Genet Metab; 2013 Dec 02; 110 Suppl():S44-8. PubMed ID: 24071437
    [Abstract] [Full Text] [Related]

  • 6. Impact of the phenylalanine hydroxylase gene on maternal phenylketonuria outcome.
    Güttler F, Azen C, Guldberg P, Romstad A, Hanley WB, Levy HL, Matalon R, Rouse BM, Trefz F, de la Cruz F, Koch R.
    Pediatrics; 2003 Dec 02; 112(6 Pt 2):1530-3. PubMed ID: 14654659
    [Abstract] [Full Text] [Related]

  • 7. Sapropterin therapy increases stability of blood phenylalanine levels in patients with BH4-responsive phenylketonuria (PKU).
    Burton BK, Bausell H, Katz R, Laduca H, Sullivan C.
    Mol Genet Metab; 2010 Dec 02; 101(2-3):110-4. PubMed ID: 20638313
    [Abstract] [Full Text] [Related]

  • 8. Mental health and social functioning in early treated Phenylketonuria: the PKU-COBESO study.
    Jahja R, Huijbregts SC, de Sonneville LM, van der Meere JJ, Bosch AM, Hollak CE, Rubio-Gozalbo ME, Brouwers MC, Hofstede FC, de Vries MC, Janssen MC, van der Ploeg AT, Langendonk JG, van Spronsen FJ.
    Mol Genet Metab; 2013 Dec 02; 110 Suppl():S57-61. PubMed ID: 24183792
    [Abstract] [Full Text] [Related]

  • 9. Impact of phenylalanine on cognitive, cerebral, and neurometabolic parameters in adult patients with phenylketonuria (the PICO study): a randomized, placebo-controlled, crossover, noninferiority trial.
    Trepp R, Muri R, Abgottspon S, Bosanska L, Hochuli M, Slotboom J, Rummel C, Kreis R, Everts R.
    Trials; 2020 Feb 13; 21(1):178. PubMed ID: 32054509
    [Abstract] [Full Text] [Related]

  • 10. Phenylalanine blood levels and clinical outcomes in phenylketonuria: a systematic literature review and meta-analysis.
    Waisbren SE, Noel K, Fahrbach K, Cella C, Frame D, Dorenbaum A, Levy H.
    Mol Genet Metab; 2007 Feb 13; 92(1-2):63-70. PubMed ID: 17591452
    [Abstract] [Full Text] [Related]

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  • 12. Dynamics of hyperphenylalaninemia and intellectual outcome in teenagers with phenylketonuria.
    Didycz B, Bik-Multanowski M.
    Acta Biochim Pol; 2017 Feb 13; 64(3):527-531. PubMed ID: 28850634
    [Abstract] [Full Text] [Related]

  • 13. Long-term follow-up of patients treated for phenylketonuria (PKU). Results from the Prague PKU Center.
    Cechák P, Hejcmanová L, Rupp A.
    Eur J Pediatr; 1996 Jul 13; 155 Suppl 1():S59-63. PubMed ID: 8828612
    [Abstract] [Full Text] [Related]

  • 14. Intellectual development and academic achievement of children treated early for phenylketonuria.
    Berry HK, O'Grady DJ, Perlmutter LJ, Bofinger MK.
    Dev Med Child Neurol; 1979 Jun 13; 21(3):311-20. PubMed ID: 467815
    [Abstract] [Full Text] [Related]

  • 15. Neurocognitive functioning in adults with phenylketonuria: Report of a 10-year follow-up.
    Feldmann R, Osterloh J, Onon S, Fromm J, Rutsch F, Weglage J.
    Mol Genet Metab; 2019 Mar 13; 126(3):246-249. PubMed ID: 30598390
    [Abstract] [Full Text] [Related]

  • 16. [The IQ of heterozygotes for phenylketonuria (PKU). indication of a blood phenylalanine-independent action of the PKU mutant (author's transl)].
    Thalhammer O, Havelec L, Knoll E, Wehle E.
    Wien Klin Wochenschr; 1977 Oct 28; 89(20):684-6. PubMed ID: 930099
    [Abstract] [Full Text] [Related]

  • 17. Prefrontal cortex cognitive deficits in children treated early and continuously for PKU.
    Diamond A, Prevor MB, Callender G, Druin DP.
    Monogr Soc Res Child Dev; 1997 Oct 28; 62(4):i-v, 1-208. PubMed ID: 9421921
    [Abstract] [Full Text] [Related]

  • 18. Mental development of phenylketonuric children on or off diet after the age of six.
    Brown ES, Warner R.
    Psychol Med; 1976 May 28; 6(2):287-96. PubMed ID: 63976
    [Abstract] [Full Text] [Related]

  • 19. The outcome of white matter abnormalities in early treated phenylketonuric patients: A retrospective longitudinal long-term study.
    Mastrangelo M, Chiarotti F, Berillo L, Caputi C, Carducci C, Di Biasi C, Manti F, Nardecchia F, Leuzzi V.
    Mol Genet Metab; 2015 Nov 28; 116(3):171-7. PubMed ID: 26283467
    [Abstract] [Full Text] [Related]

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