Advances and challenges in phenylketonuria
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/s10545-010-9247-7
Reference29 articles.
1. Anon (2001) National institutes of health consensus development conference statement: phenylketonuria: screening and management, October 16–18, 2000. Pediatrics 108(4): 972–982
2. Azen C et al (1996) Summary of findings from the United States collaborative study of children treated for phenylketonuria. Eur J Pediatr 155 Suppl 1:S29–S32
3. Blau N (2010) Sapropterin dihydrochloride for phenylketonuria and tetrahydrobiopterin deficiency. Expert Rev Endocrinol Metab 5(4):483–494
4. Blau N et al (2009) Optimizing the use of sapropterin (BH4) in the management of phenylketonuria. Mol Genet Metab 96:158–163
5. Blau N et al (2004) The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Mol Genet Metab 82:101–111
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