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Journal Abstract Search

429 related items for PubMed ID: 12655552

  • 1. 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; 21(4):399. PubMed ID: 12655552
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  • 4. An amino-acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2.
    DiLella AG, Marvit J, Brayton K, Woo SL.
    Nature; 2003 Apr; 327(6120):333-6. PubMed ID: 2884570
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  • 5. [Analysis of RFLP haplotypes and point mutations at the phenylalanine hydroxylase (PAH) locus in PKU families from north China].
    Fang B.
    Zhongguo Yi Xue Ke Xue Yuan Xue Bao; 1992 Feb; 14(1):46-50. PubMed ID: 1350519
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  • 6. 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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  • 7. Haplotypes and mutations of the PAH locus in Egyptian families with PKU.
    Effat L, Kuzmin A, Kasem N, Meguid NA, Kotb S, Eisensmith RC, Temtamy SA, Rushdi S, Woo S, el-Awady M.
    Eur J Hum Genet; 1999 Apr; 7(2):259-62. PubMed ID: 10196714
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  • 8. [Ten novel mutations in the phenylalanine hydroxylase gene identified in Chinese patients with phenylketonuria].
    Song F, Jin YW, Wang H, Yang YL, Zhang YM, Zhang T.
    Zhongguo Yi Xue Ke Xue Yuan Xue Bao; 2003 Apr; 25(2):142-4. PubMed ID: 12905706
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  • 9. 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 Apr; 1(2):129-37. PubMed ID: 1301200
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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; 97(3):165-71. PubMed ID: 19394257
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  • 15. Modern techniques of differentiating the various phenotypes of phenylketonuria.
    Guttler F.
    Postgrad Med J; 1989 Jul; 65 Suppl 2():S2-6. PubMed ID: 2576129
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  • 16. 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; 17(2):122-30. PubMed ID: 11180595
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  • 19. [Molecular genetic aspects of phenylketonuria (PKU)].
    Giltay JC, van Hoef AM, de Weger R, Duran M, Berger R, Beemer FA.
    Tijdschr Kindergeneeskd; 1991 Jun; 59(3):77-80. PubMed ID: 1677790
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