SEARCH

SEARCH BY CITATION

REFERENCES

  • Aulehla-Scholz C, Heilbronner H. 2003. Mutational spectrum in German patients with Phenylalanine Hydroxylase Deficiency. Hum Mutat 21:399400.
  • Bickel H, Gerrard J, Hickmans EM. 1953. Influence of phenylalanine intake on phenylketonuria. Lancet II:812823.
  • Economou-Petersen E, Henriksen KF, Guldberg P, Guttler F. 1992. Molecular basis for nonphenylketonuria hyperphenyl-alaninemia. Genomics 14:15.
  • Eisensmith RC, Okano Y, Dasovich M, Wang T, Guttler F, Lou H, Guldberg P, Lichter-Konecki U, Konecki DS, Svensson E, et al. 1992. Multiple origins for phenylketonuria in Europe. Am J Hum Genet 51:13551365.
  • Følling A. 1934. Über Ausscheidung von Phenylbrenztraubensäure im Harn als Stoffwechselanomalie in Verbindung mit Imbezillität. Hoppe Seylers ZPhysiol Chem 227:169176.
  • Gable M, Williams M, Stephenson A, Okano Y, Ring S, Hurtubise M, Tyfield L. 2003. Comparative multiplex dosage analysis detects whole exon deletions at the Phenylalanine Hydroxylase Locus. Hum Mutat 21:379386.
  • Guthrie R, Susie A. 1963. A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants. Pediatrics 32:338343.
  • Hoang L, Byck S, Prevost L, Scriver CR. 1996. PAH Mutation Analysis Consortium database: a database for disease-producing and other allelic variation at the human PAH locus. Nucleic Acids Res 24:127131.
  • Kasnauskiene J, Giannattasio S, Lattanzio P, Cimbalistiene L, Kučinskas V. 2003. The molecular basis of Phenylketonuria in Lit!huania. Hum Mutat 21:398.
  • Krawczak M, Zschocke J. 2003. A role for overdominant selection in phenylketonuria? Evidence from molecular data. Hum Mutat 21:394397.
  • Kure S, Hou DC, Ohura T, Iwamoto H, Suzuki S, Sugiyama N, Sakamoto O, Fujii K, Matsubara Y, Narisawa K. 1999. Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. J Pediatr 135:375378.
  • Lindner M, Steinfeld R, Burgard P, Schulze A, Mayatepek E, Zschocke J. 2003. Tetrahydrobiopterin sensitivity in German patients with mild phenylalanine hydroxylase deficiency. Hum Mutat 21:400.
  • Okano Y, Eisensmith RC, Guttler F, Lichter-Konecki U, Konecki DS, Trefz FK, Dasovich M, Wang T, Henriksen K, Lou H, Woo SLC. 1991. Molecular basis of phenotypic heterogeneity in phenylketonuria. N Engl J Med 324:12321238.
  • Pey AL, Desviat LR, Gámez A, Ugarte M, Pérez B. 2003. Phenylketonuria: genotype-phenotype correlations based on expression analysis of structural and functional mutations in PAH. Hum Mutat 21:370378.
  • Pronina N, Giannattasio S, Lattanzio P, Lugovska R, Vevere P, Kornejeva A. 2003. The molecular basis of phenylketonuria in Latvia. Hum Mutat 21:398399.
  • Scriver CR, Hurtubise M, Konecki D, Phommarinh M, Prevost L, Erlandsen H, Stevens R, Waters PJ, Ryan S, McDonald D, Sarkissian C. 2003. PAHdb 2003: what a locus-specific knowledgebase can do. Hum Mutat 21:333344.
  • Tighe O, Dunican D, O'Neill C, Bertorelle G, Beattie D, Graham C, Zschocke J, Cali F, Romano V, Hrabincova E, Kozak L, Nechyporenko M, Livshits L, Guldberg P, Jurkowska M, Zekanowski C, Perez B, Desviat LR, Ugarte M, Kucinskas V, Knappskog P, Treacy E, Naughten E, Tyfield L, Byck S, Scriver CR, Mayne PD, Croke DT. 2003. Genetic diversity within the R408W phenylketonuria mutation lineages in Europe. Hum Mutat 21:387393.
  • Waters PJ. 2003. How PAH gene mutations cause hyperphenylalaninemia, and why mechanism matters: insights from in vitro expression. Hum Mutat 21:357369.
  • Woo SL, Lidsky AS, Guttler F, Chandra T, Robson KJ. 1983. Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenyl-ketonuria. Nature 306:151155.
  • Zschocke J. 2003. Phenylketonuria mutations in Europe. Hum Mutat 21:345356.
  • Zschocke J, Preuße A, Sarnavka V, Fumič K, Mardešič D, Hoffmann GF, Barič I. 2003. The molecular basis of phenylalanine hydroxylase deficiency in Croatia. Hum Mutat 21:399.