Phenylalanine tolerance can already reliably be assessed at the age of 2 years in patients with PKU-Reference-Cited by-同舟云学术

Phenylalanine tolerance can already reliably be assessed at the age of 2 years in patients with PKU

Published:2009-01-10 Issue:1 Volume:32 Page:27-31
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

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

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10545-008-0937-3

Reference18 articles.

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2. Burton BK, Grange DK, Milanowski A, et al (2007) The response of patients with phenylketonuria and elevated serum phenylalanine to treatment with oral sapropterin dihydrochloride (6R-tetrahydrobiopterin): a phase II, multicentre, open-label, screening study. J Inherit Metab Dis 30: 700–707. doi: 10.1007/s10545-007-0605-z .

3. Crone MR, van Spronsen FJ, Oudshoorn K, Bekhof J, van Rijn G, Verkerk PH (2005) Behavioural factors related to metabolic control in patients with phenylketonuria. J Inherit Metab Dis 28: 627–637. doi: 10.1007/s10545-005-0014-0 .

4. Goris AH, Westerterp KR (2000) Improved reporting of habitual food intake after confrontation with earlier results on food reporting. Br J Nutr 83: 363–369.

5. 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. doi: 10.1086/301920 .

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