Tetrahydrobiopterin responsiveness in phenylketonuria differs between patients with the same genotype

Molecular Genetics and Metabolism

Volumn 73, Issue 1, 2001, Pages 104-106

  Lindner, M ^a   Haas, D ^a   Zschocke, J ^a   Burgard, P ^a  

^a UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; PHENYLALANINE 4 MONOOXYGENASE; PROTEIN PAH; TETRAHYDROBIOPTERIN; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; DIETARY INTAKE; DISEASE ASSOCIATION; ENZYME DEFICIENCY; ENZYME SYNTHESIS; GENE MUTATION; GENOTYPE; HUMAN; NEWBORN SCREENING; PHENYLKETONURIA; PRIORITY JOURNAL; STANDARDIZATION; TREATMENT PLANNING;

EID: 0035718935     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.2001.3168     Document Type: Article

References (13)

1. Rationale for the German recommendations for phenylalanine level control in phenylketonuria 1997
2. Metabolism of the phenylalanine hydroxylation cofactor
3. Tetrahydrobiopterin deficiency: From genotype to phenotype
4. Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency
5. Tetrahydrobiopterin-responsive hyperphenylalaninemia (HPA) in dutch neonates
6. 4)
7. Estimation of tetrahydro-, dihydro- and fully oxidised pterins by high-performance liquid chromatography using sequential electrochemical and fluorescence detection
8. Biochemical hallmarks of tyrosine deficiency
9. Phenylketonuria mutations in Germany
10. Monogenic traits are not simple: Lessons from phenylketonuria
11. Phenotypes of patients with simple mendelian disorders are complex traits: Thresholds, modifiers and system dynamics
12. A prevalent missense mutation in Northern Europe associated with hyperphenylalaninaemia
13. An amino-acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2