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Journal of Inherited Metabolic Disease
Published in: Journal of Inherited Metabolic Disease 4/2009

01-08-2009 | LETTER TO THE EDITOR

In response to van Spronsen 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)

Authors: Alberto Ponzone, Alessandro Mussa, Francesco Porta

Published in: Journal of Inherited Metabolic Disease | Issue 4/2009

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Excerpt

We read with interest the study by van Spronsen and colleagues on the predictive value of both pre-treatment Phe and early Phe tolerance in phenylalanine hydroxylase deficiency (van Spronsen et al 2009). We also appreciated the attempt to analyse the variations of Phe tolerance with patients’ age, an unsolved question. …
Literature
Burlina A, Blau N (2009) Effect of BH4 supplementation on phenylalanine tolerance. J Inherit Metab Dis 32: 40–45PubMedCrossRef
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 63:71–79PubMedCrossRef
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: 561–569PubMedCrossRef
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: 27–31PubMedCrossRef
Metadata
Title
In response to van Spronsen 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)
Authors
Alberto Ponzone
Alessandro Mussa
Francesco Porta
Publication date
01-08-2009
Publisher
Springer Netherlands
Published in
Journal of Inherited Metabolic Disease / Issue 4/2009
Print ISSN: 0141-8955
Electronic ISSN: 1573-2665
DOI
https://doi.org/10.1007/s10545-009-9959-8

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