PKU and NON-PKU Hyperphenylalaninemia: Differentiation, Indication for Therapy and Therapeutic Results

This publication has 9 references indexed in Scilit:

• Linkage disequilibrium between mutation and RFLP haplotype at the phenylalanine hydroxylase locus in the German population
  Human Genetics, 1988
• Polymorphic DNA haplotypes at the human phenylalanine hydroxylase locus and their relationship with phenylketonuria
  Human Genetics, 1987
• An ammo-acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2
  Nature, 1987
• Correlation between polymorphic DNA haplotypes at phenylalanine hydroxylase locus and clinical phenotypes of phenylketonuria
  The Journal of Pediatrics, 1987
• Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria
  Nature, 1986
• The Diagnosis of Phenylketonuria
  American Journal of Diseases of Children, 1980
• Sensitive in vivo assay of the phenylalanine hydroxylating system with a small intravenous dose of heptadeutero l-phenylalanine using high pressure liquid chromatography and capillary gas chromatography/mass fragmentography
  Clinica Chimica Acta; International Journal of Clinical Chemistry, 1979
• Determination of Phenylalanine Hydroxylase Activity in Patients with Phenylketonuria and Hyperphenylalaninemia
  Pediatric Research, 1975
• Phenylalaninaemia: Differential diagnosis
  Archives of Disease in Childhood, 1974