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Journal Abstract Search

254 related items for PubMed ID: 16879198

  • 1. Molecular and phenotypic characteristics of patients with phenylketonuria in Serbia and Montenegro.
    Stojiljkovic M, Jovanovic J, Djordjevic M, Grkovic S, Cvorkov Drazic M, Petrucev B, Tosic N, Karan Djurasevic T, Stojanov L, Pavlovic S.
    Clin Genet; 2006 Aug; 70(2):151-5. PubMed ID: 16879198
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  • 2. The molecular basis of phenylketonuria in Latvia.
    Pronina N, Giannattasio S, Lattanzio P, Lugovska R, Vevere P, Kornejeva A.
    Hum Mutat; 2003 Apr; 21(4):398-9. PubMed ID: 12655551
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  • 3. The molecular basis of phenylketonuria in Lithuania.
    Kasnauskiene J, Giannattasio S, Lattanzio P, Cimbalistiene L, Kucinskas V.
    Hum Mutat; 2003 Apr; 21(4):398. PubMed ID: 12655550
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  • 4. [Mutation of the phenylalanine hydroxylase gene in the population of central Bohemia. Relation to the clinical picture of phenylketonuria].
    Růzicková S, Kozák L, Blazková M, Kapras J, St'astná S.
    Cas Lek Cesk; 1997 May 07; 136(9):282-5. PubMed ID: 9264877
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  • 5. 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 07; 97(4):512-6. PubMed ID: 8632937
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  • 6. Predicting a clinical/biochemical phenotype for PKU/MHP patients with PAH gene mutations.
    Kasnauskiene J, Cimbalistiene L, Kucinskas V.
    Genetika; 2008 Oct 07; 44(10):1397-403. PubMed ID: 19062537
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  • 7. 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 07; 9(3):CR142-6. PubMed ID: 12640344
    [Abstract] [Full Text] [Related]

  • 8. [Study on mutations of exon 12 of the PAH gene in 127 phenylketonuria patients].
    Qiu WJ, Zhang YF, Ye J, Han LS, Gu XF.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2004 Jun 07; 21(3):261-3. PubMed ID: 15192831
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  • 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 07; 17(2):122-30. PubMed ID: 11180595
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  • 12. The molecular basis of phenylalanine hydroxylase deficiency in Croatia.
    Zschocke J, Preusse A, Sarnavka V, Fumic K, Mardesic D, Hoffmann GF, Baric I.
    Hum Mutat; 2003 Apr 07; 21(4):399. PubMed ID: 12655552
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  • 15. Mutation screening of phenylketonuria in the Far East of Russia.
    Sueoka H, Moshinetsky A, Nagao M, Chiba S.
    J Hum Genet; 1999 Apr 07; 44(6):368-71. PubMed ID: 10570906
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  • 16. Modern techniques of differentiating the various phenotypes of phenylketonuria.
    Guttler F.
    Postgrad Med J; 1989 Apr 07; 65 Suppl 2():S2-6. PubMed ID: 2576129
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  • 17. Mutation at the phenylalanine hydroxylase gene (PAH) and its use to document population genetic variation: the Quebec experience.
    Carter KC, Byck S, Waters PJ, Richards B, Nowacki PM, Laframboise R, Lambert M, Treacy E, Scriver CR.
    Eur J Hum Genet; 1998 Jan 07; 6(1):61-70. PubMed ID: 9781015
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  • 19. 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
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  • 20. The mutant genotype is the main determinant of the metabolic phenotype in phenylalanine hydroxylase deficiency.
    Bénit P, Rey F, Blandin-Savoja F, Munnich A, Abadie V, Rey J.
    Mol Genet Metab; 1999 Sep 10; 68(1):43-7. PubMed ID: 10479481
    [Abstract] [Full Text] [Related]

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