Disorders of phenylalanine and tetrahydrobiopterin metabolism

Physician's Guide to the Treatment and Follow-Up of Metabolic Diseases

Volumn , Issue , 2006, Pages 25-34

  Blau, Nenad ^a   Burgard, Peter ^b  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^b Zentrum fur Kinder und Jugendmedizin   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 33749489646     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1007/3-540-28962-3_3     Document Type: Chapter

References (12)

1. American Academy of Pediatrics (2001) Maternal phenylketonuria. Pediatrics 107(2):427-8
2. Blau N, Erlandsen H (2004) The metabolic and molecular bases of tetrahydrobiopterinresponsive phenylalanine hydroxylase deficiency. Mol Genet Metab 82:101-111
3. Blau N, Thöny B, Cotton RGH, Hyland K (2001) Disorders of tetrahydrobiopterin and related biogenic amines. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Vogelstein B (eds) The metabolic and molecular bases of inherited disease, 8th edn.McGraw-Hill, New York, pp 1725-1776
4. Brown AS, Fernhoff PM,Waisbren SE et al. (2002) Barriers to successful dietary control among pregnant women with phenylketonuria. Genet Med 4(2):84-9
5. BurgardP,Bremer HJ,Buhrdel Pet al. (1999) Rationale for the Germanrecommendations for phenylalanine level control in phenylketonuria 1997. Eur J Pediatr 158(1):46-54
6. Medical Research CouncilWorking Party on Phenylketonuria (1993) Recommendations on the dietary management of phenylketonuria. Arch Dis Child 68:426-427
7. National Institute of Health Consensus Development Panel (2001) National Institute of Health consensus development conference statement. Phenylketonuria: screening and management, 16-18 October 2000. Pediatrics 108:972-982
8. Ponzone A, Baglieri S, BattistoniGet al. (2001) Catechol-O-methyl transferase inhibitors in the treatment of inherited dopamine deficiency. Am J Hum Genet (Suppl. 1) 69:1072
9. Schuler A, Blau N, Ponzone A (1995) Monoamine oxidase inhibitors in tetrahydrobiopterin deficiency. Eur J Pediatr 154(12):997
10. Scriver CR, Kaufman S (2001) Hyperphenylalaninemia: phenylalanine hydroxylase deficiency. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Vogelstein B (eds) The metabolic and molecular bases of inherited disease, 8th edn. McGraw-Hill, New York, pp 1667-1724
11. SpadaM,Ferraris S,FerreroGBet al. (1996)Monitoring treatment in tetrahydrobiopterin deficiency by serum prolactin. J Inherit Metab Dis 19(2):231-233
12. Maternal Phenylketonuria Collaborative Study (2003) Pediatrics 112(6):1513-1587