Benefits of mutation analysis and examination of brain phenylalanine levels in the management of phenylketonuria

Pediatrics

Volumn 106, Issue 5 I, 2000, Pages 1136-1137

  Koch, Richard ^a,c   Güttler, Flemming ^b  

^a UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^b JOHN F KENNEDY INSTITUTE   (Denmark)

^c CHILDREN S HOSPITAL LOS ANGELES   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PHENYLALANINE;

DNA DETERMINATION; DRUG BRAIN LEVEL; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; HUMAN; NOTE; PHENYLKETONURIA; PRIORITY JOURNAL;

EID: 0033753610     PISSN: 00314005     EISSN: None     Source Type: Journal    
DOI: 10.1542/peds.106.5.1136     Document Type: Note

References (21)

1. Uber ausscheidung von phenylbrenztraubensaure in den harn als stoffwechselanomalie in verbindung mit imbezillitat
2. Cloned human phenylalanine hydroxylase gene permits prenatal diagnosis and carrier detection of classical phenylketonuria
3. Relation between genotype and phenotype in Swedish phenylketonuria and hyperphenylalaninemia patients
4. PAH deficiency in Italy: Correlation of genotype to phenotype in the Sicilian population
5. Relationship between mutation genotype and biochemical phenotype in a heterogeneous Spanish phenylketonuria population
6. A European multicenter study of phenylalanine hydroxylase deficiency: Classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype
7. Molecular basis of phenylketonuria and a correlation between genotype and phenotype in a heterogeneous southeastern US population
8. Comparison of genotype and intellectual phenotype in untreated PKU patients
9. The relationship of genotype to phenotype in phenylalanine hydroxylase deficiency
10. Human PAH mutation and hyperphenylalaninemia phenotypes: A metanalysis of genotype-phenotype correlations
11. Relationship among genotype, biochemical phenotype, and cognitive performance in females with phenylalanine hydroxylase deficiency. Report from the Maternal PKU Collaborative Study
12. In vivo NMR spectroscopy in patients with phenylketonuria: Clinical significance of interindividual differences in brain phenylalanine concentrations
13. Brain phenylalanine concentration in the management of adults with phenylketonuria
14. Phosphorus metabolites by NMR
15. Blood-brain barrier carrier-mediated transport and brain metabolism of amino acids
16. Lowering brain phenylalanine levels by giving other large neutral amino acids. A new experimental therapeutic approach to phenylketonuria
17. Large neutral amino acids block phenylalanine transport into brain tissue in patients with phenylketonuria
18. Reduction of cerebrospinal fluid phenylalanine after oral administration of valine, isoleucine, and leucine
19. Preliminary support for the oral administration of valine, isoleucine and leucine for phenylketonuria
20. Valine, isoleucine, and leucine. A new treatment for phenylketonuria