Mutation analysis anticipates dietary requirements in phenylketonuria

European Journal of Pediatrics, Supplement

Volumn 159, Issue 2, 2000, Pages

  Guttler, F ^a   Guldberg, P ^a  

^a JOHN F KENNEDY INSTITUTE   (Denmark)

Author keywords

Functional hemizygosity; Genotype phenotype correlations; Mutation; Phenylalanine hydroxylase; Phenylketonuria

Indexed keywords

PHENYLALANINE; PHENYLALANINE 4 MONOOXYGENASE;

COGNITION; CONFERENCE PAPER; DIET THERAPY; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GENETIC HETEROGENEITY; GENOTYPE; HUMAN; HYPERPHENYLALANINEMIA; NUTRITIONAL REQUIREMENT; PHENYLKETONURIA; PRIORITY JOURNAL;

EID: 0033827249     PISSN: 09439676     EISSN: None     Source Type: Journal    
DOI: 10.1007/pl00014381     Document Type: Conference Paper

References (10)

1. Molecular basis for nonphenylketonuria hyperphenylalaninemia
2. In vivo assessment of mutations in the phenylalanine hydroxylase gene by phenylalanine loading: Characterization of seven common mutations
3. A European multicenter study of phenylalanine hydroxylase deficiency: Classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype
4. Hyperphenylalaninemia: Diagnosis and classification of the various types of phenylalanine hydroxylase deficiency
5. The influence of mutations on enzyme activity and phenylalanine tolerance in phenylalanine hydroxylase deficiency
6. Relationship among genotype, biochemical phenotype, and cognitive performance in females with phenylalanine hydroxylase deficiency. Report from the Maternal PKU Collaborative Study
7. Human PAH mutation and hyperphenylalaninemia phenotypes: A metanalysis of genotype-phenotype correlations
8. PAH Mutation Analysis Consortium Database: 1997. Prototype for relational locus-specific mutation databases
9. The hyperphenylalaninemias
10. In vitro expression analysis of mutations in phenylalanine hydroxylase: Linking genotype to phenotype and structure to function