What we know that could influence future treatment of phenylketonuria
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/s10545-008-0917-7
Reference89 articles.
1. Armstrong MD, Tyler FH (1955) Studies on phenylketonuria. I. Restriction phenylalanine intake in phenylketonuria. J Clin Invest 34: 565–580.
2. Bernegger C, Blau N (2002) High frequency of tetrahydrobiopterin-responsiveness among hyperphenylalaninemias: A study of 1,919 patients observed from 1988 to 2002. Mol Genet Metab 77: 304–313.
3. Bickel H, Gerrard J, Hickmans EM (1954) Influence of phenylalanine intake on the chemistry and behaviour of a phenylketonuric child. Acta Paediat 43: 64–77.
4. 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.
5. Chen L, Woo SL (2005) Complete and persistent phenotypic correction of phenylketonuria in mice by site-specific genome integration of murine phenylalanine hydroxylase cDNA. Proc Natl Acad Sci USA 102: 15581–15586.
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