Efficiency of long-term tetrahydrobiopterin monotherapy in phenylketonuria

Journal of Inherited Metabolic Disease

Volumn 27, Issue 4, 2004, Pages 449-453

  Steinfeld, R ^a   Kohlschutter A ^a   Ullrich, K ^a   Lukacs, Z ^a  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

PHENYLALANINE; TETRAHYDROBIOPTERIN;

AMINO ACID BLOOD LEVEL; AMINO ACID METABOLISM; ARTICLE; CASE REPORT; CHILD DEVELOPMENT; DIET RESTRICTION; DISEASE SEVERITY; DRUG RESPONSE; HUMAN; INBORN ERROR OF METABOLISM; INCIDENCE; INFANT; MONOTHERAPY; PHENYLKETONURIA; QUALITY OF LIFE;

BIOPTERIN; CIRCADIAN RHYTHM; DIET; HUMANS; INFANT, NEWBORN; PHENYLALANINE; PHENYLKETONURIAS; QUALITY OF LIFE;

EID: 4344696801     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/B:BOLI.0000037351.10132.99     Document Type: Article

References (5)

1. Kure S, Hou DC, Ohura T, et al (1999) Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. J Pediatr 135: 375-378.
2. Muntau AC, Roschinger W, Habich M, et al (2002) Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria. N Engl J Med 347: 2122-2132.
3. Schweitzer-Krantz S, Burgard P (2000) Survey of national guidelines for the treatment of phenylketonuria. Eur J Pediatr 159(supplement 2): S70-73.
4. Steinfeld R, Kohlschutter A, Zschocke J, Lindner M, Ullrich K, Lukacs Z (2002) Tetrahydrobiopterin monotherapy for phenylketonuria patients with common mild mutations. Eur J Pediatr 161: 403-405.
5. Walter JH, White FJ, Hall SK, et al (2002) How practical are recommendations for dietary control in phenylketonuria? Lancet 360: 55-57.