Relation between phenylalanine hydroxylase genotypes and phenotypic parameters of diagnosis and treatment of hyperphenylalaninaemic disorders
U. Lichter-Konecki
University Children's Hospital and German Collaborative Study of PKU, Im Neuenheimer Feld 150, Heidelberg, 69120 Germany
Search for more papers by this authorA. Rupp
University Children's Hospital and German Collaborative Study of PKU, Im Neuenheimer Feld 150, Heidelberg, 69120 Germany
Search for more papers by this authorD. S. Konecki
University Children's Hospital and German Collaborative Study of PKU, Im Neuenheimer Feld 150, Heidelberg, 69120 Germany
Search for more papers by this authorF. K. Trefz
University Children's Hospital and German Collaborative Study of PKU, Im Neuenheimer Feld 150, Heidelberg, 69120 Germany
Search for more papers by this authorH. Schmidt
University Children's Hospital and German Collaborative Study of PKU, Im Neuenheimer Feld 150, Heidelberg, 69120 Germany
Search for more papers by this authorP. Burgard
University Children's Hospital and German Collaborative Study of PKU, Im Neuenheimer Feld 150, Heidelberg, 69120 Germany
Search for more papers by this authorU. Lichter-Konecki
University Children's Hospital and German Collaborative Study of PKU, Im Neuenheimer Feld 150, Heidelberg, 69120 Germany
Search for more papers by this authorA. Rupp
University Children's Hospital and German Collaborative Study of PKU, Im Neuenheimer Feld 150, Heidelberg, 69120 Germany
Search for more papers by this authorD. S. Konecki
University Children's Hospital and German Collaborative Study of PKU, Im Neuenheimer Feld 150, Heidelberg, 69120 Germany
Search for more papers by this authorF. K. Trefz
University Children's Hospital and German Collaborative Study of PKU, Im Neuenheimer Feld 150, Heidelberg, 69120 Germany
Search for more papers by this authorH. Schmidt
University Children's Hospital and German Collaborative Study of PKU, Im Neuenheimer Feld 150, Heidelberg, 69120 Germany
Search for more papers by this authorP. Burgard
University Children's Hospital and German Collaborative Study of PKU, Im Neuenheimer Feld 150, Heidelberg, 69120 Germany
Search for more papers by this author
References
- 1Apold J, Eiken HG, Svensson E et al (1993) The phenylketonuria G272X/haplotype 7 mutation in European populations. Hum Genet, 92: 107–109.
- 2Eisensmith RC, Woo SLC (1992) Molecular basis of phenylketonuria and related hyperphenylalaninemias: Mutations and polymorphisms in the human phenylalanine hydroxylase gene. Hum Mutat, 1: 13–23.
- 3Kaufman S (1976) Phenylketonuria: biochemical mechanisms. Adv Neurochem, 2: 1–132.
- 4Konecki DS, Schweitzer-Krantz S, Byrd D, Trefz FK, Lichter-Konecki U (1993) Facilitation of hyperphenylalaninaemia phenotype assessment by genotype analysis. Eur J Pediatr, 152: 1048–1049.
10.1007/BF01957239 Google Scholar
- 5Lutz P, Schmidt H, Batzler U (1990) Study design and description of patients. Eur J Pediatr, 149 (supplement 1): 5–12.
10.1007/BF02126292 Google Scholar
- 6Okano Y, Eisensmith RC, Güttler F et al (1991) Molecular basis of phenotypic heterogeneity in phenylketonuria. N Engl J Med, 324: 1232–1238.
- 7Svensson E, vonDöbeln U, Eisensmith RC, Hagenfeldt L, Woo SLC (1993) Relation between genotype and phenotype in Swedish phenylketonuria and hyperphenylalaninemia patients. Eur J Pediatr, 152: 132–139.
