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129 related items for PubMed ID: 10203137

  • 1. Genotype and intellectual phenotype in untreated phenylketonuria patients.
    Ramus SJ, Forrest SM, Pitt DD, Cotton RG.
    Pediatr Res; 1999 Apr; 45(4 Pt 1):474-81. PubMed ID: 10203137
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  • 2. Comparison of genotype and intellectual phenotype in untreated PKU patients.
    Ramus SJ, Forrest SM, Pitt DB, Saleeba JA, Cotton RG.
    J Med Genet; 1993 May; 30(5):401-5. PubMed ID: 8320703
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  • 5. Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations.
    Kayaalp E, Treacy E, Waters PJ, Byck S, Nowacki P, Scriver CR.
    Am J Hum Genet; 1997 Dec; 61(6):1309-17. PubMed ID: 9399896
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  • 8. Validation of PAH genotype-based predictions of metabolic phenylalanine hydroxylase deficiency phenotype: investigation of PKU/MHP patients from Lithuania.
    Kasnauskiene J, Cimbalistiene L, Kucinskas V.
    Med Sci Monit; 2003 Mar; 9(3):CR142-6. PubMed ID: 12640344
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  • 10. Relationship among genotype, biochemical phenotype, and cognitive performance in females with phenylalanine hydroxylase deficiency: report from the Maternal Phenylketonuria Collaborative Study.
    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; 1999 Aug; 104(2 Pt 1):258-62. PubMed ID: 10429004
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  • 11. Variations in genotype-phenotype correlations in phenylalanine hydroxylase deficiency in Chinese Han population.
    Zhu T, Ye J, Han L, Qiu W, Zhang H, Liang L, Gu X.
    Gene; 2013 Oct 15; 529(1):80-7. PubMed ID: 23932990
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  • 15. 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
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  • 17. Mutational spectrum of phenylketonuria in Jiangsu province.
    Chen YF, Jia HT, Chen ZH, Song JP, Liang Y, Pei JJ, Wu ZJ, Wang J, Qiu YL, Liu G, Sun DM, Jiang XY.
    Eur J Pediatr; 2015 Oct 30; 174(10):1333-8. PubMed ID: 25894915
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  • 20. A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype.
    Guldberg P, Rey F, Zschocke J, Romano V, François B, Michiels L, Ullrich K, Hoffmann GF, Burgard P, Schmidt H, Meli C, Riva E, Dianzani I, Ponzone A, Rey J, Güttler F.
    Am J Hum Genet; 1998 Jul 30; 63(1):71-9. PubMed ID: 9634518
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