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Journal Abstract Search

390 related items for PubMed ID: 21871829

  • 1. 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; 104 Suppl():S86-92. PubMed ID: 21871829
    [Abstract] [Full Text] [Related]

  • 2. Phenylalanine hydroxylase deficiency in south Italy: Genotype-phenotype correlations, identification of a novel mutant PAH allele and prediction of BH4 responsiveness.
    Trunzo R, Santacroce R, D'Andrea G, Longo V, De Girolamo G, Dimatteo C, Leccese A, Bafunno V, Lillo V, Papadia F, Margaglione M.
    Clin Chim Acta; 2015 Oct 23; 450():51-5. PubMed ID: 26210745
    [Abstract] [Full Text] [Related]

  • 3. Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain.
    Couce ML, Bóveda MD, Fernández-Marmiesse A, Mirás A, Pérez B, Desviat LR, Fraga JM.
    Gene; 2013 May 25; 521(1):100-4. PubMed ID: 23500595
    [Abstract] [Full Text] [Related]

  • 4. Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population.
    Dobrowolski SF, Heintz C, Miller T, Ellingson C, Ellingson C, Ozer I, Gökçay G, Baykal T, Thöny B, Demirkol M, Blau N.
    Mol Genet Metab; 2011 Feb 25; 102(2):116-21. PubMed ID: 21147011
    [Abstract] [Full Text] [Related]

  • 5. Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
    Zurflüh MR, Zschocke J, Lindner M, Feillet F, Chery C, Burlina A, Stevens RC, Thöny B, Blau N.
    Hum Mutat; 2008 Jan 25; 29(1):167-75. PubMed ID: 17935162
    [Abstract] [Full Text] [Related]

  • 6. Incidence of BH4-responsiveness in phenylalanine-hydroxylase-deficient Italian patients.
    Fiori L, Fiege B, Riva E, Giovannini M.
    Mol Genet Metab; 2005 Dec 25; 86 Suppl 1():S67-74. PubMed ID: 16198137
    [Abstract] [Full Text] [Related]

  • 7. Mutational spectrum of the phenylalanine hydroxylase gene in patients with phenylketonuria in the central region of China.
    Zhang Z, Gao JJ, Feng Y, Zhu LL, Yan H, Shi XF, Chang AM, Shi Y, Wang P.
    Scand J Clin Lab Invest; 2018 May 25; 78(3):211-218. PubMed ID: 29390883
    [Abstract] [Full Text] [Related]

  • 8. Molecular characterization of phenylketonuria and tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Japan.
    Okano Y, Kudo S, Nishi Y, Sakaguchi T, Aso K.
    J Hum Genet; 2011 Apr 25; 56(4):306-12. PubMed ID: 21307867
    [Abstract] [Full Text] [Related]

  • 9. Phenylalanine hydroxylase deficiency in Mexico: genotype-phenotype correlations, BH4 responsiveness and evidence of a founder effect.
    Vela-Amieva M, Abreu-González M, González-del Angel A, Ibarra-González I, Fernández-Lainez C, Barrientos-Ríos R, Monroy-Santoyo S, Guillén-López S, Alcántara-Ortigoza MA.
    Clin Genet; 2015 Jul 25; 88(1):62-7. PubMed ID: 24941924
    [Abstract] [Full Text] [Related]

  • 10. Mutations of the phenylalanine hydroxylase (PAH) gene in Brazilian patients with phenylketonuria.
    Acosta A, Silva W, Carvalho T, Gomes M, Zago M.
    Hum Mutat; 2001 Feb 25; 17(2):122-30. PubMed ID: 11180595
    [Abstract] [Full Text] [Related]

  • 11. 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
    [Abstract] [Full Text] [Related]

  • 12. Population genetics of hyperphenylalaninaemia resulting from phenylalanine hydroxylase deficiency in Portugal.
    Rivera I, Leandro P, Lichter-Konecki U, Tavares de Almeida I, Lechner MC.
    J Med Genet; 1998 Apr 10; 35(4):301-4. PubMed ID: 9598724
    [Abstract] [Full Text] [Related]

  • 13. Long-term treatment and diagnosis of tetrahydrobiopterin-responsive hyperphenylalaninemia with a mutant phenylalanine hydroxylase gene.
    Shintaku H, Kure S, Ohura T, Okano Y, Ohwada M, Sugiyama N, Sakura N, Yoshida I, Yoshino M, Matsubara Y, Suzuki K, Aoki K, Kitagawa T.
    Pediatr Res; 2004 Mar 10; 55(3):425-30. PubMed ID: 14681498
    [Abstract] [Full Text] [Related]

  • 14. Molecular epidemiology, genotype-phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria.
    Aldámiz-Echevarría L, Llarena M, Bueno MA, Dalmau J, Vitoria I, Fernández-Marmiesse A, Andrade F, Blasco J, Alcalde C, Gil D, García MC, González-Lamuño D, Ruiz M, Ruiz MA, Peña-Quintana L, González D, Sánchez-Valverde F, Desviat LR, Pérez B, Couce ML.
    J Hum Genet; 2016 Aug 10; 61(8):731-44. PubMed ID: 27121329
    [Abstract] [Full Text] [Related]

  • 15. 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 10; 54(6):335-9. PubMed ID: 19444284
    [Abstract] [Full Text] [Related]

  • 16. Unresponsiveness to tetrahydrobiopterin of phenylalanine hydroxylase deficiency.
    Ponzone A, Porta F, Mussa A, Alluto A, Ferraris S, Spada M.
    Metabolism; 2010 May 10; 59(5):645-52. PubMed ID: 19913839
    [Abstract] [Full Text] [Related]

  • 17. Molecular analysis of phenylketonuria (PKU) in newborns from Texas.
    Yang Y, Drummond-Borg M, Garcia-Heras J.
    Hum Mutat; 2001 Jun 10; 17(6):523. PubMed ID: 11385716
    [Abstract] [Full Text] [Related]

  • 18. Five novel mutations and two large deletions in a population analysis of the phenylalanine hydroxylase gene.
    Groselj U, Tansek MZ, Kovac J, Hovnik T, Podkrajsek KT, Battelino T.
    Mol Genet Metab; 2012 Jun 10; 106(2):142-8. PubMed ID: 22513348
    [Abstract] [Full Text] [Related]

  • 19. Genotype-predicted tetrahydrobiopterin (BH4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency.
    Karacić I, Meili D, Sarnavka V, Heintz C, Thöny B, Ramadza DP, Fumić K, Mardesić D, Barić I, Blau N.
    Mol Genet Metab; 2009 Jul 10; 97(3):165-71. PubMed ID: 19394257
    [Abstract] [Full Text] [Related]

  • 20. 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 10; 71(Pt 2):185-93. PubMed ID: 17096675
    [Abstract] [Full Text] [Related]

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