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Journal Abstract Search

266 related items for PubMed ID: 12408183

  • 1. Phenylketonuria in adulthood: a collaborative study.
    Koch R, Burton B, Hoganson G, Peterson R, Rhead W, Rouse B, Scott R, Wolff J, Stern AM, Guttler F, Nelson M, de la Cruz F, Coldwell J, Erbe R, Geraghty MT, Shear C, Thomas J, Azen C.
    J Inherit Metab Dis; 2002 Sep; 25(5):333-46. PubMed ID: 12408183
    [Abstract] [Full Text] [Related]

  • 2. Clinical significance of brain phenylalanine concentration assessed by in vivo proton magnetic resonance spectroscopy in phenylketonuria.
    Leuzzi V, Bianchi MC, Tosetti M, Carducci CL, Carducci CA, Antonozzi I.
    J Inherit Metab Dis; 2000 Sep; 23(6):563-70. PubMed ID: 11032331
    [Abstract] [Full Text] [Related]

  • 3. 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 Sep; 110 Suppl():S44-8. PubMed ID: 24071437
    [Abstract] [Full Text] [Related]

  • 4. Preliminary report on the effects of diet discontinuation in PKU.
    Koch R, Azen CG, Friedman EG, Williamson ML.
    J Pediatr; 1982 Jun; 100(6):870-5. PubMed ID: 7086586
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  • 7. 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 Jun; 110 Suppl():S57-61. PubMed ID: 24183792
    [Abstract] [Full Text] [Related]

  • 8. Neuropsychological outcome of subjects participating in the PKU adult collaborative study: a preliminary review.
    Brumm VL, Azen C, Moats RA, Stern AM, Broomand C, Nelson MD, Koch R.
    J Inherit Metab Dis; 2004 Jun; 27(5):549-66. PubMed ID: 15669671
    [Abstract] [Full Text] [Related]

  • 9. Loss of intellectual function in children with phenylketonuria after relaxation of dietary phenylalanine restriction.
    Seashore MR, Friedman E, Novelly RA, Bapat V.
    Pediatrics; 1985 Feb; 75(2):226-32. PubMed ID: 3969322
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  • 10. 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; 21(3):311-20. PubMed ID: 467815
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  • 11. Behaviour and school achievement in patients with early and continuously treated phenylketonuria.
    Stemerdink BA, Kalverboer AF, van der Meere JJ, van der Molen MW, Huisman J, de Jong LW, Slijper FM, Verkerk PH, van Spronsen FJ.
    J Inherit Metab Dis; 2000 Sep; 23(6):548-62. PubMed ID: 11032330
    [Abstract] [Full Text] [Related]

  • 12. Care of the adult with phenylketonuria.
    Koch R, Azen C, Friedman EG, Fishler K, Baumann-Frischling C, Lin T.
    Eur J Pediatr; 1996 Jul; 155 Suppl 1():S90-2. PubMed ID: 8828619
    [Abstract] [Full Text] [Related]

  • 13. Brain phenylalanine concentration in the management of adults with phenylketonuria.
    Moats RA, Koch R, Moseley K, Guldberg P, Guttler F, Boles RG, Nelson MD.
    J Inherit Metab Dis; 2000 Feb; 23(1):7-14. PubMed ID: 10682303
    [Abstract] [Full Text] [Related]

  • 14. Psychoeducational findings among children treated for phenylketonuria.
    Fishler K, Azen CG, Henderson R, Friedman EG, Koch R.
    Am J Ment Defic; 1987 Jul; 92(1):65-73. PubMed ID: 3618658
    [Abstract] [Full Text] [Related]

  • 15. [Intellectual development of phenylketonuria children treated early--a longitudinal study. 10 years' concomitant psychological study in The Netherlands].
    Slijper FM, Huisman J, Hendrikx MM, Kalverboer AF, van der Schot L.
    Monatsschr Kinderheilkd; 1989 Oct; 137(10):662-5. PubMed ID: 2586531
    [Abstract] [Full Text] [Related]

  • 16. The relationship of genotype to phenotype in phenylalanine hydroxylase deficiency.
    Koch R, Fishler K, Azen C, Guldberg P, Güttler F.
    Biochem Mol Med; 1997 Apr; 60(2):92-101. PubMed ID: 9169088
    [Abstract] [Full Text] [Related]

  • 17. Natural history of children and adults with phenylketonuria in the NBS-PKU Connect registry.
    Kenneson A, Singh RH.
    Mol Genet Metab; 2021 Nov; 134(3):243-249. PubMed ID: 34654619
    [Abstract] [Full Text] [Related]

  • 18. [Treatment and control of patients with phenylketonuria: results from the Collaborative Group of Spanish Follow-up Units].
    Campistol J, González MJ, Gutiérrez AP, Vilaseca MA, Grupo Colaborativo de Unidades de Seguimiento Españolas.
    Med Clin (Barc); 2012 Mar 03; 138(5):185-91. PubMed ID: 21794880
    [Abstract] [Full Text] [Related]

  • 19. Long-term beneficial effects of the phenylalanine-restricted diet in late-diagnosed individuals with phenylketonuria.
    Koch R, Moseley K, Ning J, Romstad A, Guldberg P, Guttler F.
    Mol Genet Metab; 1999 Jun 03; 67(2):148-55. PubMed ID: 10356314
    [Abstract] [Full Text] [Related]

  • 20. Optimising growth in phenylketonuria: current state of the clinical evidence base.
    Dokoupil K, Gokmen-Ozel H, Lammardo AM, Motzfeldt K, Robert M, Rocha JC, van Rijn M, Ahring K, Bélanger-Quintana A, MacDonald A.
    Clin Nutr; 2012 Feb 03; 31(1):16-21. PubMed ID: 21959353
    [Abstract] [Full Text] [Related]

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