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PUBMED FOR HANDHELDS

Journal Abstract Search


220 related items for PubMed ID: 1867197

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  • 2. Molecular basis for nonphenylketonuria hyperphenylalaninemia.
    Economou-Petersen E, Henriksen KF, Guldberg P, Güttler F.
    Genomics; 1992 Sep; 14(1):1-5. PubMed ID: 1358789
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  • 6. Origins of hyperphenylalaninemia in Israel.
    Kleiman S, Avigad S, Vanagaite L, Shmuelevitz A, David M, Eisensmith RC, Brand N, Schwartz G, Rey F, Munnich A, Woo SL, Shiloh Y.
    Eur J Hum Genet; 1994 Sep; 2(1):24-34. PubMed ID: 7913865
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  • 8. A defective splice site at the phenylalanine hydroxylase gene in phenylketonuria and benign hyperphenylalaninemia among Palestinian Arabs.
    Kleiman S, Bernstein J, Schwartz G, Eisensmith RC, Woo SL, Shiloh Y.
    Hum Mutat; 1992 Sep; 1(4):340-3. PubMed ID: 1301942
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  • 9. Mutations in the phenylalanine hydroxylase gene: genetic determinants for the phenotypic variability of hyperphenylalaninemia.
    Güttler F, Guldberg P.
    Acta Paediatr Suppl; 1994 Dec; 407():49-56. PubMed ID: 7766959
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  • 11. DNA haplotype analyses of patients with hyperphenylalaninemia.
    Di Silvestre D, Pandya A, Koch R, Groffen J.
    Am J Hum Genet; 1990 Oct; 47(4):706-11. PubMed ID: 2220810
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  • 13. Relation between genotype and phenotype in Swedish phenylketonuria and hyperphenylalaninemia patients.
    Svensson E, von Döbeln U, Eisensmith RC, Hagenfeldt L, Woo SL.
    Eur J Pediatr; 1993 Feb; 152(2):132-9. PubMed ID: 8444221
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  • 14. A missense mutation, S349P, completely inactivates phenylalanine hydroxylase in north African Jews with phenylketonuria.
    Weinstein M, Eisensmith RC, Abadie V, Avigad S, Lyonnet S, Schwartz G, Munnich A, Woo SL, Shiloh Y.
    Hum Genet; 1993 Feb; 90(6):645-9. PubMed ID: 8095248
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  • 17. Significant phenylalanine hydroxylation in vivo in patients with classical phenylketonuria.
    Thompson GN, Halliday D.
    J Clin Invest; 1990 Jul; 86(1):317-22. PubMed ID: 2365821
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