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Journal Abstract Search

220 related items for PubMed ID: 7711448

  • 21. Haplotype analysis of phenylalanine hydroxylase alleles in polish families with phenylketonuria.
    Jaruzelska J, Borski K, Riess O, Blin N, Słomski R.
    Acta Biochim Pol; 1989; 36(3-4):323-32. PubMed ID: 2577230
    [Abstract] [Full Text] [Related]

  • 22. Gypsy phenylketonuria: a point mutation of the phenylalanine hydroxylase gene in Gypsy families from Slovakia.
    Kalanin J, Takarada Y, Kagawa S, Yamashita K, Ohtsuka N, Matsuoka A.
    Am J Med Genet; 1994 Jan 15; 49(2):235-9. PubMed ID: 8116675
    [Abstract] [Full Text] [Related]

  • 23. PKU in Minas Gerais State, Brazil: mutation analysis.
    Santos LL, Castro-Magalhães M, Fonseca CG, Starling AL, Januário JN, Aguiar MJ, Carvalho MR.
    Ann Hum Genet; 2008 Nov 15; 72(Pt 6):774-9. PubMed ID: 18798839
    [Abstract] [Full Text] [Related]

  • 24. Ten novel mutations in the phenylalanine hydroxylase gene (PAH) observed in Brazilian patients with phenylketonuria.
    Acosta AX, Silva WA, Carvalho TM, Zago MA.
    Hum Mutat; 2001 Nov 15; 17(1):77. PubMed ID: 11139255
    [Abstract] [Full Text] [Related]

  • 25. Polymorphic DNA haplotypes at the phenylalanine hydroxylase (PAH) locus in European families with phenylketonuria (PKU).
    Daiger SP, Chakraborty R, Reed L, Fekete G, Schuler D, Berenssi G, Nasz I, Brdicka R, Kamarýt J, Pijácková A.
    Am J Hum Genet; 1989 Aug 15; 45(2):310-8. PubMed ID: 2569271
    [Abstract] [Full Text] [Related]

  • 26. Frequencies of the most common mutations responsible for phenylketonuria in Poland.
    Zekanowski C, Nowacka M, Zgulska M, Horst J, Cabalska B, Mazurczak T.
    Mol Cell Probes; 1994 Aug 15; 8(4):323-4. PubMed ID: 7870074
    [Abstract] [Full Text] [Related]

  • 27. Polymorphic DNA haplotypes at the human phenylalanine hydroxylase locus and their relationship with phenylketonuria.
    Chakraborty R, Lidsky AS, Daiger SP, Güttler F, Sullivan S, Dilella AG, Woo SL.
    Hum Genet; 1987 May 15; 76(1):40-6. PubMed ID: 2883110
    [Abstract] [Full Text] [Related]

  • 28. Phenylketonuria and the phenylalanine hydroxylase gene.
    Eisensmith RC, Woo SL.
    Mol Biol Med; 1991 Feb 15; 8(1):3-18. PubMed ID: 1943687
    [Abstract] [Full Text] [Related]

  • 29. [Spectrum and methods of detection of mutations in a phenylalanine hydroxylase gene from patients with phenylketonuria from the Novosibirsk region].
    Smagulova FO, Morozov IV.
    Bioorg Khim; 2000 Nov 15; 26(11):838-43. PubMed ID: 11696894
    [Abstract] [Full Text] [Related]

  • 30. RFLPs of the phenylalanine hydroxylase gene in the Italian population.
    Dianzani I, Farinasso L, Fortina P, Camaschella C, Ponzone R, Dahl HH, Cotton RG, Ponzone A.
    J Inherit Metab Dis; 1989 Nov 15; 12(2):162-5. PubMed ID: 2569049
    [Abstract] [Full Text] [Related]

  • 31. Predicting a clinical/biochemical phenotype for PKU/MHP patients with PAH gene mutations.
    Kasnauskiene J, Cimbalistiene L, Kucinskas V.
    Genetika; 2008 Oct 15; 44(10):1397-403. PubMed ID: 19062537
    [Abstract] [Full Text] [Related]

  • 32. The PAH gene, phenylketonuria, and a paradigm shift.
    Scriver CR.
    Hum Mutat; 2007 Sep 15; 28(9):831-45. PubMed ID: 17443661
    [Abstract] [Full Text] [Related]

  • 33. 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 15; 9(3):CR142-6. PubMed ID: 12640344
    [Abstract] [Full Text] [Related]

  • 34. The importance of arginine mutation for the evolutionary structure and function of phenylalanine hydroxylase gene.
    Lüleyap HU, Alptekin D, Pazarbaşi A, Kasap M, Kasap H, Demirhindi H, Mungan N, Ozer G, Froster UG.
    Mutat Res; 2006 Oct 10; 601(1-2):39-45. PubMed ID: 16765994
    [Abstract] [Full Text] [Related]

  • 35. Molecular basis of phenylketonuria and related hyperphenylalaninemias: mutations and polymorphisms in the human phenylalanine hydroxylase gene.
    Eisensmith RC, Woo SL.
    Hum Mutat; 1992 Oct 10; 1(1):13-23. PubMed ID: 1301187
    [Abstract] [Full Text] [Related]

  • 36. Haplotype distribution and mutations at the PAH locus in Croatia.
    Barić I, Mardesić D, Gjurić G, Sarnavka V, Göbel-Schreiner B, Lichter-Konecki U, Konecki DS, Trefz FK.
    Hum Genet; 1992 Oct 10; 90(1-2):155-7. PubMed ID: 1358784
    [Abstract] [Full Text] [Related]

  • 37. Molecular basis of phenylketonuria in Venezuela: presence of two novel null mutations.
    De Lucca M, Pérez B, Desviat LR, Ugarte M.
    Hum Mutat; 1998 Oct 10; 11(5):354-9. PubMed ID: 9600453
    [Abstract] [Full Text] [Related]

  • 38. Polymorphic DNA haplotypes at the phenylalanine hydroxylase (PAH) locus in Asian families with phenylketonuria (PKU).
    Daiger SP, Reed L, Huang SS, Zeng YT, Wang T, Lo WH, Okano Y, Hase Y, Fukuda Y, Oura T.
    Am J Hum Genet; 1989 Aug 10; 45(2):319-24. PubMed ID: 2569272
    [Abstract] [Full Text] [Related]

  • 39. 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 10; 87(1):11-7. PubMed ID: 1674714
    [Abstract] [Full Text] [Related]

  • 40. A de novo phenylketonuria mutation: ATG (Met) to ATA (Ile) in the start codon of the phenylalanine hydroxylase gene.
    Eiken HG, Knappskog PM, Apold J, Skjelkvåle L, Boman H.
    Hum Mutat; 1992 May 10; 1(5):388-91. PubMed ID: 1301947
    [Abstract] [Full Text] [Related]

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