Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency: Possible regulation of gene expression in a patient with the homozygous L48S mutation

Molecular Genetics and Metabolism

Volumn 75, Issue 2, 2002, Pages 186-187

  Blau, Nenad ^a   Trefz, Friedrich K ^b  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^b UNIVERSITY OF TÜBINGEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I; LEUCINE; MESSENGER RNA; PHENYLALANINE; PHENYLALANINE 4 MONOOXYGENASE; PROTEIN; SERINE; TETRAHYDROBIOPTERIN; TYROSINE;

AMINO ACID ANALYSIS; AMINO ACID BLOOD LEVEL; AMINO ACID SUBSTITUTION; BLOOD SAMPLING; BODY WEIGHT; CONCENTRATION (PARAMETERS); DISEASE MODEL; ENZYME ACTIVATION; ENZYME ACTIVE SITE; ENZYME ACTIVITY; ENZYME DEFICIENCY; EXON; GENE EXPRESSION; GENE MUTATION; GENOTYPE; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; HYPERPHENYLALANINEMIA; LETTER; LOADING TEST; MISSENSE MUTATION; MONOTHERAPY; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROVOCATION TEST; REGULATORY MECHANISM; TIME;

EID: 0036351315     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.2001.3294     Document Type: Editorial

References (8)

1. Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency
2. Successful treatment of phenylketonuria with tetrahydrobiopterin
3. Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates
4. Tetrahydrobiopterin responsiveness in phenylketonuria differs between patients with the same genotype
5. Tetrahydrobiopterin responsiveness in phenylketonuria. Two new cases and a review of molecular genetic findings
6. A patient with phenylketonuria successfully treated with tetrahydrobiopterin
7. PAHdb: A locus-specific knowledge base
8. Tetrahydrobiopterin regulates tyrosine hydroxylase and phenylalanine hydroxylase gene expression in dominantly inherited GTP cyclohydrolase deficiency