Long-term follow-up of a patient with mild tetrahydrobiopterin-responsive phenylketonuria

Molecular Genetics and Metabolism

Volumn 81, Issue 2, 2004, Pages 137-139

  Cerone, R ^a   Schiaffino, M C ^a   Fantasia, A R ^a   Perfumo, M ^a   Birk Moller, L ^b   Blau, N ^c  

^a UNIVERSITY OF GENOA   (Italy)

^b JOHN F KENNEDY INSTITUTE   (Denmark)

^c UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

PHENYLALANINE; TETRAHYDROBIOPTERIN;

ARTICLE; DRUG EFFICACY; ENZYME ACTIVITY; ERYTHROCYTE; FEMALE; FOLLOW UP; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; HUMAN; NEWBORN; NEWBORN SCREENING; PHENYLKETONURIA; PREGNANCY; PRIORITY JOURNAL;

EID: 0347301642     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ymgme.2003.11.008     Document Type: Article

References (7)

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2. Spaapen L.J., Estela Rubio-Gozalbo M. Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency, state of the art. Mol. Genet. Metab. 78(2):2003;93-99.
3. Bernegger C., Blau N. High frequency of tetrahydrobiopterin- responsiveness among hyperphenylalaninemias: a study of 1919 patients observed from 1988 to 2002. Mol. Genet. Metab. 77:2002;304-313.
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5. Fiege B., Ballhausen D., Kierat L., Leimbacher W., Goriounov D., Schircks B., Thony B., Blau N. Plasma tetrahydrobiopterin and its pharmacokinetics following oral administration. Mol. Genet. Metab. 81:2004;45-51.
6. Lindner M., Haas D., Zschocke J., Burgard P. Tetrahydrobiopterin responsiveness in phenylketonuria differs between patients with the same genotype. Mol. Genet. Metab. 73:2001;104-106.
7. Lindner M., Steinfeld R., Burgard P., Schulze A., Mayatepek E., Zschocke J. Tetrahydrobiopterin sensitivity in German patients with mild phenylalanine hydroxylase deficiency. Hum. Mutat. 21:2003;400.