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216 related items for PubMed ID: 16755493

  • 1. Frequencies of phenylalanine hydroxylase mutations I65T, R252W, R261Q, R261X, IVS10nt11, V388M, R408W, Y414C, and IVS12nt1 in Minas Gerais, Brazil.
    Santos LL, Magalhães Mde C, Reis Ade O, Starling AL, Januário JN, Fonseca CG, Aguiar MJ, Carvalho MR.
    Genet Mol Res; 2006 Mar 31; 5(1):16-23. PubMed ID: 16755493
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  • 2. 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 31; 72(Pt 6):774-9. PubMed ID: 18798839
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  • 4. Population genetics of hyperphenylalaninaemia resulting from phenylalanine hydroxylase deficiency in Portugal.
    Rivera I, Leandro P, Lichter-Konecki U, Tavares de Almeida I, Lechner MC.
    J Med Genet; 1998 Apr 31; 35(4):301-4. PubMed ID: 9598724
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  • 5. Mutation screening of phenylketonuria in the Far East of Russia.
    Sueoka H, Moshinetsky A, Nagao M, Chiba S.
    J Hum Genet; 1999 Apr 31; 44(6):368-71. PubMed ID: 10570906
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  • 7. [Screening for mutation variants in exons 5, 7, 12 of phenylalanine hydroxylase gene using denaturing gradient gel-electrophoresis].
    Solovĭov OO, Livshyts' LA.
    Tsitol Genet; 2009 Apr 31; 43(4):20-4. PubMed ID: 19938643
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  • 8. IDENTIFICATION OF MUTATIONS IN THE PAH GENE IN PKU PATIENTS IN THE STATE OF MATO GROSSO.
    Costa RD, Galera BB, Rezende BC, Venâncio AC, Galera MF.
    Rev Paul Pediatr; 2020 Apr 31; 38():e2018351. PubMed ID: 32074228
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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 31; 17(2):122-30. PubMed ID: 11180595
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  • 12. Molecular analysis of phenylketonuria (PKU) in newborns from Texas.
    Yang Y, Drummond-Borg M, Garcia-Heras J.
    Hum Mutat; 2001 Jun 31; 17(6):523. PubMed ID: 11385716
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  • 14. Molecular characterization of phenylalanine hydroxylase deficiency in Chile. Mutations in brief no. 243. Online.
    Pérez B, Desviat LR, De Lucca M, Cornejo V, Raimann E, Ugarte M.
    Hum Mutat; 1999 Jun 31; 13(6):503. PubMed ID: 10408782
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  • 17. Genetic background of clinical homogeneity of phenylketonuria in Poland.
    Jaruzelska J, Matuszak R, Lyonnet S, Rey F, Rey J, Filipowicz J, Borski K, Munnich A.
    J Med Genet; 1993 Mar 31; 30(3):232-4. PubMed ID: 8097262
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  • 18. Phenylalanine hydroxylase gene mutation R408W is present on 84% of Estonian phenylketonuria chromosomes.
    Lilleväli H, Ounap K, Metspalu A.
    Eur J Hum Genet; 1996 Mar 31; 4(5):296-300. PubMed ID: 8946176
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  • 19. Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations.
    Pey AL, Pérez B, Desviat LR, Martínez MA, Aguado C, Erlandsen H, Gámez A, Stevens RC, Thórólfsson M, Ugarte M, Martínez A.
    Hum Mutat; 2004 Nov 31; 24(5):388-99. PubMed ID: 15459954
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  • 20. [Analysis of mutations in the phenylalanine hydroxylase gene in Ukrainian families at high risk for phenylketonuria].
    Nechiporenko MV, Lalivshits LA.
    Tsitol Genet; 2000 Nov 31; 34(6):59-63. PubMed ID: 11391893
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