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Springer Science and Business Media LLC
Reference28 articles.
1. Steinfeld, R., Kohlschutter, A., Ullrich, K. & Lukacs, Z. Efficiency of long-term tetrahydrobiopterin monotherapy in phenylketonuria. J. Inherit. Metab. Dis. 27, 449–453 (2004).
2. Shi, X. T. et al. Newborn screening for inborn errors of metabolism in mainland china: 30 years of experience. JIMD Rep 6, 79–83 (2012).
3. Mitchell, J., Trakadis, Y. J. & Scriver, C. R. Phenylalanine hydroxylase deficiency. Genet Med. 13, 697–707 (2011).
4. Daniele, A. et al. Molecular epidemiology of phenylalanine hydroxylase deficiency in Southern Italy: a 96% detection rate with ten novel mutations. Ann Hum Genet. 71(Pt 2), 185–193 (2007).
5. Desviat, L. R. et al. Tetrahydrobiopterin responsiveness: results of BH4 loading test in 31 Spanish PKU patients and correlation with their genotype. Mol Genet Metab 83, 157–162 (2004).
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