In response to van Spronsen et al

Journal of Inherited Metabolic Disease

Volumn 32, Issue 4, 2009, Pages 584-586

  van Spronsen, F J ^a   van Rijn, M ^a   Dorgelo, B ^a   Hoeksma, M ^a   Bosch, A M ^a   Mulder, M F ^a   de Klerk, J B C ^a   de Koning, T ^a   Rubio Gozalbo, M E ^a   de Vries, M ^a   Verkerk, P H ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

PHENYLALANINE; PHENYLALANINE 4 MONOOXYGENASE;

AGE DISTRIBUTION; AMINO ACID BLOOD LEVEL; CLINICAL ASSESSMENT; DISEASE SEVERITY; HUMAN; LETTER; NEWBORN SCREENING; PHENOTYPE; PHENYLALANINE TOLERANCE; PHENYLKETONURIA; PROGNOSIS; PROTEIN INTAKE; TREATMENT PLANNING;

EID: 69449108405     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-009-9959-8     Document Type: Letter

References (4)

1. Burlina A, Blau N (2009) Effect of BH4 supplementation on phenylalanine tolerance. J Inherit Metab Dis 32: 40-45
2. Guldberg P, Rey F, Zschocke J, et al (1998) A European multicenter study of phenylalanine hydroxylase deficiency: Classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype. Am J Hum Genet 63: 71-79
3. Ponzone A, Spada M, Roasio L, Porta F, Mussa A, Ferraris S (2008) Impact of neonatal protein metabolism and nutrition on screening for phenylketonuria. J Pediatr Gastroenterol Nutr 46: 561-569
4. Van Spronsen FJ, van Rijn M, Dorgelo B, et al (2009) Phenylalanine tolerance can already reliably be assessed at the age of 2 years in patients with PKU. J Inherit Metab Dis 32: 27-31