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Journal Abstract Search

509 related items for PubMed ID: 17096675

  • 1. Molecular epidemiology of phenylalanine hydroxylase deficiency in Southern Italy: a 96% detection rate with ten novel mutations.
    Daniele A, Cardillo G, Pennino C, Carbone MT, Scognamiglio D, Correra A, Pignero A, Castaldo G, Salvatore F.
    Ann Hum Genet; 2007 Mar; 71(Pt 2):185-93. PubMed ID: 17096675
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  • 2. Molecular analysis of phenylketonuria (PKU) in newborns from Texas.
    Yang Y, Drummond-Borg M, Garcia-Heras J.
    Hum Mutat; 2001 Jun; 17(6):523. PubMed ID: 11385716
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  • 4. Mutation analysis in hyperphenylalaninemia patients from South Italy.
    Trunzo R, Santacroce R, D'Andrea G, Longo V, De Girolamo G, Dimatteo C, Leccese A, Lillo V, Papadia F, Margaglione M.
    Clin Biochem; 2013 Dec; 46(18):1896-8. PubMed ID: 23792259
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  • 8. [Mutation analysis of the PAH gene in patients with phenylketonuria in Gansu province].
    Yan YS, Wang Z, Hao SJ, Meng Y, Zheng L, Huang SZ.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2009 Aug; 26(4):419-22. PubMed ID: 20017307
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  • 9. The spectrum of mutations identified in Cypriot patients with phenylalanine hydroxylase deficiency detected through neonatal screening.
    Georgiou T, Ho G, Vogazianos M, Dionysiou M, Nicolaou A, Chappa G, Nicolaides P, Stylianidou G, Christodoulou J, Drousiotou A.
    Clin Biochem; 2012 May; 45(7-8):588-92. PubMed ID: 22330942
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  • 10. Two novel mutations in exon 11 of the PAH gene (V1163del TG and P362T) associated with classic phenylketonuira and mild phenylketonuria. Mutations in brief no. 143. Online.
    Mallolas J, Campistol J, Lambruschini N, Vilaseca MA, Cambra FJ, Estivill X, Milà M.
    Hum Mutat; 1998 May; 11(6):482. PubMed ID: 10200057
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  • 11. A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterin.
    Dobrowolski SF, Borski K, Ellingson CC, Koch R, Levy HL, Naylor EW.
    J Hum Genet; 2009 Jun; 54(6):335-9. PubMed ID: 19444284
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  • 12. Incidence of BH4-responsiveness in phenylalanine-hydroxylase-deficient Italian patients.
    Fiori L, Fiege B, Riva E, Giovannini M.
    Mol Genet Metab; 2005 Dec; 86 Suppl 1():S67-74. PubMed ID: 16198137
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  • 13. Mutation analysis of phenylketonuria patients from Morocco: high prevalence of mutation G352fsdelG and detection of a novel mutation p.K85X.
    Dahri S, Desviat LR, Pérez B, Leal F, Ugarte M, Chabraoui L.
    Clin Biochem; 2010 Jan; 43(1-2):76-81. PubMed ID: 19786003
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  • 14. Evaluation of neonatal BH4 loading test in neonates screened for hyperphenylalaninemia.
    Feillet F, Chery C, Namour F, Kimmoun A, Favre E, Lorentz E, Battaglia-Hsu SF, Guéant JL.
    Early Hum Dev; 2008 Sep; 84(9):561-7. PubMed ID: 18321666
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  • 15. [Spectrum of phenylalanine hydroxylase gene mutations and genotype-phenotype correlation in the patients with phenylketonuria in Beijing area of China].
    Qu YJ, Song F, Jin YW, Wang H, Zhang YM, Qin JL, Qiu L.
    Zhonghua Er Ke Za Zhi; 2008 Feb; 46(2):115-9. PubMed ID: 19099685
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  • 16. Molecular basis of phenylketonuria and a correlation between genotype and phenotype in a heterogeneous southeastern US population.
    Eisensmith RC, Martinez DR, Kuzmin AI, Goltsov AA, Brown A, Singh R, Elsas LJ II, Woo SL.
    Pediatrics; 1996 Apr; 97(4):512-6. PubMed ID: 8632937
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  • 17. Phenylalanine hydroxylase deficiency: molecular epidemiology and predictable BH4-responsiveness in South Portugal PKU patients.
    Rivera I, Mendes D, Afonso Â, Barroso M, Ramos R, Janeiro P, Oliveira A, Gaspar A, Tavares de Almeida I.
    Mol Genet Metab; 2011 Apr; 104 Suppl():S86-92. PubMed ID: 21871829
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  • 18. Molecular analysis of the inheritance of phenylketonuria and mild hyperphenylalaninemia in families with both disorders.
    Ledley FD, Levy HL, Woo SL.
    N Engl J Med; 1986 May 15; 314(20):1276-80. PubMed ID: 3702929
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  • 19. Phenylalanine hydroxylase deficiency in the Slovak population: genotype-phenotype correlations and genotype-based predictions of BH4-responsiveness.
    Polak E, Ficek A, Radvanszky J, Soltysova A, Urge O, Cmelova E, Kantarska D, Kadasi L.
    Gene; 2013 Sep 10; 526(2):347-55. PubMed ID: 23764561
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  • 20. Mutations in the phenylalanine hydroxylase gene identified in 95 patients with phenylketonuria using novel systems of mutation scanning and specific genotyping based upon thermal melt profiles.
    Dobrowolski SF, Ellingson C, Coyne T, Grey J, Martin R, Naylor EW, Koch R, Levy HL.
    Mol Genet Metab; 2007 Jul 10; 91(3):218-27. PubMed ID: 17502162
    [Abstract] [Full Text] [Related]

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