Mutations in the phenylalanine hydroxylase gene identified in 95 patients with phenylketonuria using novel systems of mutation scanning and specific genotyping based upon thermal melt profiles

This publication has 26 references indexed in Scilit:

• Molecular Epidemiology of Phenylalanine Hydroxylase Deficiency in Southern Italy: a 96% Detection Rate with Ten Novel Mutations
  Annals of Human Genetics, 2006
• Molecular and phenotypic characteristics of patients with phenylketonuria in Serbia and Montenegro
  Clinical Genetics, 2006
• The spectrum of phenylalanine variations under tetrahydrobiopterin load in subjects affected by phenylalanine hydroxylase deficiency
  Journal of Inherited Metabolic Disease, 2006
• The clinical aspects of newborn screening: Importance of newborn screening follow‐up
  Mental Retardation and Developmental Disabilities Research Reviews, 2006
• Rapid, comprehensive screening of the human medium chain acyl-CoA dehydrogenase gene
  Molecular Genetics and Metabolism, 2004
• The molecular basis of phenylketonuria in Lithuania
  Human Mutation, 2003
• A Phenylalanine Hydroxylase Amino Acid Polymorphism with Implications for Molecular Diagnostics
  Molecular Genetics and Metabolism, 2001
• A European Multicenter Study of Phenylalanine Hydroxylase Deficiency: Classification of 105 Mutations and a General System for Genotype-Based Prediction of Metabolic Phenotype
  American Journal of Human Genetics, 1998
• Human Phenylalanine Hydroxylase Mutations and Hyperphenylalaninemia Phenotypes: A Metanalysis of Genotype-Phenotype Correlations
  American Journal of Human Genetics, 1997
• Phenylketonuria: Epitome of Human Biochemical Genetics
  New England Journal of Medicine, 1980