These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

123 related items for PubMed ID: 9169088

  • 1. 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]

  • 2.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 3. Phenylalanine hydroxylase gene mutation R408W is present on 84% of Estonian phenylketonuria chromosomes.
    Lilleväli H, Ounap K, Metspalu A.
    Eur J Hum Genet; 1996 Apr; 4(5):296-300. PubMed ID: 8946176
    [Abstract] [Full Text] [Related]

  • 4. Effect of genotype on changes in intelligence quotient after dietary relaxation in phenylketonuria and hyperphenylalaninaemia.
    Greeves LG, Patterson CC, Carson DJ, Thom R, Wolfenden MC, Zschocke J, Graham CA, Nevin NC, Trimble ER.
    Arch Dis Child; 2000 Mar; 82(3):216-21. PubMed ID: 10685924
    [Abstract] [Full Text] [Related]

  • 5. 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; 112(6 Pt 2):1530-3. PubMed ID: 14654659
    [Abstract] [Full Text] [Related]

  • 6. The correlation of genotype and phenotype in Portuguese hyperphenylalaninemic patients.
    Rivera I, Cabral A, Almeida M, Leandro P, Carmona C, Eusébio F, Tasso T, Vilarinho L, Martins E, Lechner MC, de Almeida IT, Konecki DS, Lichter-Konecki U.
    Mol Genet Metab; 2000 Mar; 69(3):195-203. PubMed ID: 10767174
    [Abstract] [Full Text] [Related]

  • 7. Genotype-phenotype correlations in phenylketonuria.
    Trefz FK, Burgard P, König T, Goebel-Schreiner B, Lichter-Konecki U, Konecki D, Schmidt E, Schmidt H, Bickel H.
    Clin Chim Acta; 1993 Jul 30; 217(1):15-21. PubMed ID: 8222278
    [Abstract] [Full Text] [Related]

  • 8. Phenylalanine hydroxylase deficiency.
    Mitchell JJ, Trakadis YJ, Scriver CR.
    Genet Med; 2011 Aug 30; 13(8):697-707. PubMed ID: 21555948
    [Abstract] [Full Text] [Related]

  • 9. Mutational spectrum of phenylalanine hydroxylase deficiency in the population resident in Catalonia: genotype-phenotype correlation.
    Mallolas J, Vilaseca MA, Campistol J, Lambruschini N, Cambra FJ, Estivill X, Milà M.
    Hum Genet; 1999 Nov 30; 105(5):468-73. PubMed ID: 10598814
    [Abstract] [Full Text] [Related]

  • 10. Genotype and intellectual phenotype in untreated phenylketonuria patients.
    Ramus SJ, Forrest SM, Pitt DD, Cotton RG.
    Pediatr Res; 1999 Apr 30; 45(4 Pt 1):474-81. PubMed ID: 10203137
    [Abstract] [Full Text] [Related]

  • 11. Evidence for origin, by recurrent mutation, of the phenylalanine hydroxylase R408W mutation on two haplotypes in European and Quebec populations.
    Byck S, Morgan K, Tyfield L, Dworniczak B, Scriver CR.
    Hum Mol Genet; 1994 Sep 30; 3(9):1675-7. PubMed ID: 7833927
    [Abstract] [Full Text] [Related]

  • 12.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 13.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 14.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 15.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 16.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 17. Different presentations of late-detected phenylketonuria in two brothers with the same R408W/R111X genotype in the PAH gene.
    Gizewska M, Cabalska B, Cyrytowski L, Nowacki P, Zekanowski C, Walczak M, Jóźwiak I, Koziarska D.
    J Intellect Disabil Res; 2003 Feb 30; 47(Pt 2):146-52. PubMed ID: 12542580
    [Abstract] [Full Text] [Related]

  • 18. Mutations in the phenylalanine hydroxylase gene: genetic determinants for the phenotypic variability of hyperphenylalaninemia.
    Güttler F, Guldberg P.
    Acta Paediatr Suppl; 1994 Dec 30; 407():49-56. PubMed ID: 7766959
    [Abstract] [Full Text] [Related]

  • 19.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 20.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 7.