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Journal Abstract Search

361 related items for PubMed ID: 8444221

  • 1.
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  • 2. Polymorphic DNA haplotypes at the phenylalanine hydroxylase locus and their relation to phenotype in Swedish phenylketonuria families.
    Svensson E, von Döbeln U, Hagenfeldt L.
    Hum Genet; 1991 May; 87(1):11-7. PubMed ID: 1674714
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  • 4. Two missense mutations causing mild hyperphenylalaninemia associated with DNA haplotype 12.
    Svensson E, Eisensmith RC, Dworniczak B, von Döbeln U, Hagenfeldt L, Horst J, Woo SL.
    Hum Mutat; 1992 May; 1(2):129-37. PubMed ID: 1301200
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  • 6. 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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  • 7. 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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  • 8. The phenylketonuria locus: current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populations.
    Konecki DS, Lichter-Konecki U.
    Hum Genet; 1991 Aug 10; 87(4):377-88. PubMed ID: 1679029
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  • 9. A defective splice site at the phenylalanine hydroxylase gene in phenylketonuria and benign hyperphenylalaninemia among Palestinian Arabs.
    Kleiman S, Bernstein J, Schwartz G, Eisensmith RC, Woo SL, Shiloh Y.
    Hum Mutat; 1992 Aug 10; 1(4):340-3. PubMed ID: 1301942
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  • 11. Mutations in the phenylalanine hydroxylase gene: genetic determinants for the phenotypic variability of hyperphenylalaninemia.
    Güttler F, Guldberg P.
    Acta Paediatr Suppl; 1994 Dec 10; 407():49-56. PubMed ID: 7766959
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  • 13. [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 10; 46(2):115-9. PubMed ID: 19099685
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  • 14. 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
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  • 15. Phenylketonuria genotypes correlated to metabolic phenotype groups in Norway.
    Eiken HG, Knappskog PM, Motzfeldt K, Boman H, Apold J.
    Eur J Pediatr; 1996 Jul 10; 155(7):554-60. PubMed ID: 8831077
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  • 16. Phenylketonuria mutations and their relation to RFLP haplotypes at the PAH locus in Czech PKU families.
    Kozák L, Kuhrová V, Blazková M, Romano V, Fajkusová L, Dvoráková D, Pijácková A.
    Hum Genet; 1995 Oct 10; 96(4):472-6. PubMed ID: 7557973
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  • 17. 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 10; 9(3):CR142-6. PubMed ID: 12640344
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  • 18. [Phenotypic expression of 12 mutations of the phenylalanine hydroxylase gene].
    Rey F, Abadie V, Lyonnet S, Berthelon M, Caillaud C, Melle D, Labrune P, Saudubray JM, Munnich A, Rey J.
    Arch Fr Pediatr; 1992 Oct 10; 49(8):705-10. PubMed ID: 1288453
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  • 19. 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 10; 105(5):468-73. PubMed ID: 10598814
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  • 20. Mutational and phenotypical spectrum of phenylalanine hydroxylase deficiency in Denmark.
    Bayat A, Yasmeen S, Lund A, Nielsen JB, Møller LB.
    Clin Genet; 2016 Sep 10; 90(3):247-51. PubMed ID: 26542770
    [Abstract] [Full Text] [Related]

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