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Journal Abstract Search

220 related items for PubMed ID: 1867197

  • 21. Intracellular phenylalanine and tyrosine concentration in homozygotes and heterozygotes for phenylketonuria (PKU) and hyperphenylalaninemia compared with normals.
    Thalhammer O, Lubec G, Königshofer H, Scheibenreiter S, Coradello H.
    Hum Genet; 1982; 60(4):320-1. PubMed ID: 7106768
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  • 22. PKU in Slovakia: mutation screening and haplotype analysis.
    Kádasi L, Poláková H, Feráková E, Hudecová S, Bohusová T, Szomolayová I, Strnová J, Hruskovic I, Moschonas NK, Ferák V.
    Hum Genet; 1995 Jan; 95(1):112-4. PubMed ID: 7814013
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  • 23. Analysis of phenylalanine hydroxylase genotypes and hyperphenylalaninemia phenotypes using L-[1-13C]phenylalanine oxidation rates in vivo: a pilot study.
    Treacy EP, Delente JJ, Elkas G, Carter K, Lambert M, Waters PJ, Scriver CR.
    Pediatr Res; 1997 Oct; 42(4):430-5. PubMed ID: 9380432
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  • 26. Haplotype distribution and molecular defects at the phenylalanine hydroxylase locus in Italy.
    Dianzani I, Devoto M, Camaschella C, Saglio G, Ferrero GB, Cerone R, Romano C, Romeo G, Giovannini M, Riva E.
    Hum Genet; 1990 Nov; 86(1):69-72. PubMed ID: 1979309
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  • 28. Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenylalaninemia in southern Europe.
    Guldberg P, Romano V, Ceratto N, Bosco P, Ciuna M, Indelicato A, Mollica F, Meli C, Giovannini M, Riva E.
    Hum Mol Genet; 1993 Oct; 2(10):1703-7. PubMed ID: 8268925
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  • 30. Mutation and haplotype analysis of phenylalanine hydroxylase alleles in classical PKU patients from the Czech Republic: identification of four novel mutations.
    Kozák L, Blazková M, Kuhrová V, Pijácková A, Růzicková S, St'astná S.
    J Med Genet; 1997 Nov; 34(11):893-8. PubMed ID: 9391881
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  • 31. Intellectual, neurologic, and neuropsychologic outcome in untreated subjects with nonphenylketonuria hyperphenylalaninemia. German Collaborative Study on Phenylketonuria.
    Weglage J, Ullrich K, Pietsch M, Fünders B, Güttler F, Harms E.
    Pediatr Res; 1997 Sep; 42(3):378-84. PubMed ID: 9284280
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  • 35. 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; 45(2):310-8. PubMed ID: 2569271
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  • 38. 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; 35(4):301-4. PubMed ID: 9598724
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  • 39. RFLP haplotyping and mutation analysis of the phenylalanine hydroxylase gene in Dutch phenylketonuria families.
    Meijer H, Jongbloed RJ, Hekking M, Spaapen LJ, Geraedts JP.
    Hum Genet; 1993 Dec; 92(6):588-92. PubMed ID: 7903270
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  • 40. DNA methylated alleles of the phenylalanine hydroxylase promoter remodeled at elevated phenylalanine levels in newborns with hyperphenylalaninemia.
    Item CB, Farhadi S, Schanzer A, Greber-Platzer S.
    Clin Biochem; 2017 Aug; 50(12):729-732. PubMed ID: 28389235
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