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Journal of Inherited Metabolic Disease|May 26, 2004
Discordant PKU phenotype in one family due to disparate genotypes and a novel mutationJ J Johnston, U Lichter-Konecki, E Wilson, et al.Clinica Chimica Acta; International Journal of Clinical Chemistry|July 30, 1993
Genotype-phenotype correlations in phenylketonuriaF K Trefz, P Burgard, T König, et al.The Journal of Pediatrics|December 1, 1992
3-Methylglutaconic aciduria associated with Pearson syndrome and respiratory chain defectsK M Gibson, M J Bennett, C E Mize, et al.Biochemistry|April 19, 1988
Phenylalanine hydroxylase deficiency caused by a single base substitution in an exon of the human phenylalanine hydroxylase geneU Lichter-Konecki, D S Konecki, A G DiLella, et al.Human Genetics|March 1, 1989
DNA haplotype analysis at the phenylalanine hydroxylase locus in the Turkish populationU Lichter-Konecki, M Schlotter, C Yaylak, et al.Human Genetics|September 1, 1993
The phenylketonuria G272X haplotype 7 mutation in European populationsJ Apold, H G Eiken, E Svensson, et al.Monatsschrift Kinderheilkunde : Organ Der Deutschen Gesellschaft Fur Kinderheilkunde|November 1, 1991
[Macrocephaly as the initial manifestation of glutaryl-CoA-dehydrogenase deficiency (glutaric aciduria type I)]F K Trefz, G F Hoffmann, E Mayatepek, et al.American Journal of Human Genetics|December 1, 1992
Multiple origins for phenylketonuria in EuropeR C Eisensmith, Y Okano, M Dasovich, et al.Somatic Cell and Molecular Genetics|May 1, 1991
Molecular characterization of PKU allele prevalent in southern Europe and IrelandM Dasovich, D Konecki, U Lichter-Konecki, et al.The New England Journal of Medicine|May 2, 1991
Molecular basis of phenotypic heterogeneity in phenylketonuriaY Okano, R C Eisensmith, F Güttler, et al.Pageof 4