Effect of BH4 supplementation on phenylalanine tolerance
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/s10545-008-0947-1
Reference32 articles.
1. Bélanger-Quintana A, Garcia MJ, Castro M, et al (2005) Spanish BH4-responsive phenylalanine hydroxylase-deficient patients: evolution of seven patients on long-term treatment with tetrahydrobiopterin. Mol Genet Metab 86(Supplement 1): 61–66.
2. Bernegger C, Blau N (2002) High frequency of tetrahydrobiopterin-responsiveness among hyperphenylalaninemias: a study of 1919 patients observed from 1988 to 2002. Mol Genet Metab 77: 304–313.
3. Blau N (2008) Defining tetrahydrobiopterin (BH4)-responsiveness in PKU. J Inherit Metab Dis 31(1): 2–3.
4. Blau N, Erlandsen H (2004) The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Mol Genet Metab 82: 101–111.
5. Boveda MD, Couce ML, Castineiras DE, et al (2007) The tetrahydrobiopterin loading test in 36 patients with hyperphenylalaninaemia: evaluation of response and subsequent treatment. J Inherit Metab Dis 30(5): 812.
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