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Journal Abstract Search

956 related items for PubMed ID: 29390883

  • 1. 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; 78(3):211-218. PubMed ID: 29390883
    [Abstract] [Full Text] [Related]

  • 2. 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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  • 5. [Correlation between genotypes and biochemical phenotypes of phenylalanine hydroxylase in patients with phenylketonuria].
    Shu JB, Meng YT, Dang LH, Fu BJ, Song L.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2012 Dec 10; 29(6):635-41. PubMed ID: 23225039
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  • 6. 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 10; 174(10):1333-8. PubMed ID: 25894915
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  • 7. PAH mutation spectrum and correlation with PKU manifestation in north Jiangsu province population.
    Wang ZW, Jiang SW, Zhou BC.
    Kaohsiung J Med Sci; 2018 Feb 10; 34(2):89-94. PubMed ID: 29413232
    [Abstract] [Full Text] [Related]

  • 8. Phenylalanine hydroxylase genotype-phenotype associations in the United States: A single center study.
    Rajabi F, Rohr F, Wessel A, Martell L, Dobrowolski SF, Guldberg P, Güttler F, Levy HL.
    Mol Genet Metab; 2019 Dec 10; 128(4):415-421. PubMed ID: 31623983
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  • 9. 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
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  • 10. 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 23; 97(3):165-71. PubMed ID: 19394257
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  • 11. In vivo studies of phenylalanine hydroxylase by phenylalanine breath test: diagnosis of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
    Okano Y, Hase Y, Kawajiri M, Nishi Y, Inui K, Sakai N, Tanaka Y, Takatori K, Kajiwara M, Yamano T.
    Pediatr Res; 2004 Nov 23; 56(5):714-9. PubMed ID: 15319459
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  • 13. Molecular characterisation of phenylketonuria in a Chinese mainland population using next-generation sequencing.
    Li N, Jia H, Liu Z, Tao J, Chen S, Li X, Deng Y, Jin X, Song J, Zhang L, Liang Y, Wang W, Zhu J.
    Sci Rep; 2015 Oct 27; 5():15769. PubMed ID: 26503515
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  • 14. Analysis of the genotype-phenotype correlation in patients with phenylketonuria in mainland China.
    Li N, He C, Li J, Tao J, Liu Z, Zhang C, Yuan Y, Jiang H, Zhu J, Deng Y, Guo Y, Li Q, Yu P, Wang Y.
    Sci Rep; 2018 Jul 26; 8(1):11251. PubMed ID: 30050108
    [Abstract] [Full Text] [Related]

  • 15. 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 Jul 26; 104 Suppl():S86-92. PubMed ID: 21871829
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  • 16. Mutation spectrum of PAH gene in phenylketonuria patients in Northwest China: identification of twenty novel variants.
    Yan Y, Zhang C, Jin X, Zhang Q, Zheng L, Feng X, Hao S, Gao H, Ma X.
    Metab Brain Dis; 2019 Jun 26; 34(3):733-745. PubMed ID: 30747360
    [Abstract] [Full Text] [Related]

  • 17. Unresponsiveness to tetrahydrobiopterin of phenylalanine hydroxylase deficiency.
    Ponzone A, Porta F, Mussa A, Alluto A, Ferraris S, Spada M.
    Metabolism; 2010 May 26; 59(5):645-52. PubMed ID: 19913839
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  • 18. Correlation between genotype and the tetrahydrobiopterin-responsive phenotype in Chinese patients with phenylketonuria.
    Tao J, Li N, Jia H, Liu Z, Li X, Song J, Deng Y, Jin X, Zhu J.
    Pediatr Res; 2015 Dec 26; 78(6):691-9. PubMed ID: 26322415
    [Abstract] [Full Text] [Related]

  • 19. 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 26; 106(2):142-8. PubMed ID: 22513348
    [Abstract] [Full Text] [Related]

  • 20. [Study of the phenylalanine hydroxylase gene variants in patients with phenylketonuria from Jiangxi province].
    Lu Q, Liu Y, Yang B, Xie K, Zou Y, Lu W, Wang F.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Nov 10; 36(11):1057-1061. PubMed ID: 31703125
    [Abstract] [Full Text] [Related]

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