ThePAH gene, phenylketonuria, and a paradigm shift, Human Mutation, vol.21, issue.9, pp.831-876, 2007. ,
DOI : 10.1002/ajmg.1320560404
A European Multicenter Study of Phenylalanine Hydroxylase Deficiency: Classification of 105 Mutations and a General System for Genotype-Based Prediction of Metabolic Phenotype, The American Journal of Human Genetics, vol.63, issue.1, pp.71-80, 1998. ,
DOI : 10.1086/301920
Tetrahydrobiopterin, its Mode of Action on Phenylalanine Hydroxylase, and Importance of Genotypes for Pharmacological Therapy of Phenylketonuria, Human Mutation, vol.29, issue.1, pp.927-963, 2013. ,
DOI : 10.1002/humu.20637
Challenges and Pitfalls in the Management of Phenylketonuria, PEDIATRICS, vol.126, issue.2, pp.333-374, 2010. ,
DOI : 10.1542/peds.2009-3584
Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study, The Lancet, vol.370, issue.9586, pp.504-514, 2007. ,
DOI : 10.1016/S0140-6736(07)61234-3
Loss of Function in Phenylketonuria Is Caused by Impaired Molecular Motions and Conformational Instability, The American Journal of Human Genetics, vol.83, issue.1, pp.5-17, 2008. ,
DOI : 10.1016/j.ajhg.2008.05.013
Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations, Human Mutation, vol.269, issue.Suppl 1, pp.388-99, 2004. ,
DOI : 10.1021/bi034021s
The interplay between genotype, metabolic state and cofactor treatment governs phenylalanine hydroxylase function and drug response, Human Molecular Genetics, vol.20, issue.13, pp.2628-2669, 2011. ,
DOI : 10.1093/hmg/ddr165
Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency, Human Mutation, vol.21, issue.1, pp.167-75, 2008. ,
DOI : 10.1007/s00726-002-0354-0
Utility of phenylalanine hydroxylase genotype for tetrahydrobiopterin responsiveness classification in patients with phenylketonuria, Molecular Genetics and Metabolism, vol.107, issue.1-2 ,
DOI : 10.1016/j.ymgme.2012.07.008
Significance of genotype in tetrahydrobiopterin-responsive phenylketonuria, Journal of Inherited Metabolic Disease, vol.29, issue.1, pp.22-28, 2009. ,
DOI : 10.1016/j.bbadis.2006.02.001
6R-tetrahydrobiopterin treated PKU patients below 4years of age: Physical outcomes, nutrition and genotype, Molecular Genetics and Metabolism, vol.115, issue.1, pp.10-16, 2015. ,
DOI : 10.1016/j.ymgme.2015.03.007
Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype, Orphanet Journal of Rare Diseases, vol.8, issue.1, p.103, 2013. ,
DOI : 10.1136/gut.26.9.907
Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain, Gene, vol.521, issue.1, pp.100-104, 2013. ,
DOI : 10.1016/j.gene.2013.03.004
Long-term treatment with tetrahydrobiopterin in phenylketonuria: Treatment strategies and prediction of long-term responders, Molecular Genetics and Metabolism, vol.107, issue.3, pp.294-301, 2012. ,
DOI : 10.1016/j.ymgme.2012.09.021
Tetrahydrobiopterin responsiveness after extended loading test of 12 Danish PKU patients with the Y414C mutation, Journal of Inherited Metabolic Disease, vol.347, issue.1, pp.9-16, 2010. ,
DOI : 10.1007/s10545-009-9002-0
Long-term follow-up of patients with phenylketonuria treated with tetrahydrobiopterin: a seven years experience, Orphanet Journal of Rare Diseases, vol.10, issue.1, p.14, 2015. ,
DOI : 10.1016/j.ymgme.2012.12.006
Correlation between genotype and the tetrahydrobiopterin-responsive phenotype in Chinese patients with phenylketonuria, Pediatric Research, vol.6, issue.6 ,
DOI : 10.1038/ejhg.2014.114
START, a double blind, placebo-controlled pharmacogenetic test of responsiveness to sapropterin dihydrochloride in phenylketonuria patients, Molecular Genetics and Metabolism, vol.105, issue.2, pp.193-200, 2012. ,
DOI : 10.1016/j.ymgme.2011.10.014
Phenylketonuria, The Lancet, vol.376, issue.9750, pp.1417-1444, 2010. ,
DOI : 10.1016/S0140-6736(10)60961-0
DHPLC mutation analysis of phenylketonuria, Molecular Genetics and Metabolism, vol.78, issue.3, pp.205-215, 2003. ,
DOI : 10.1016/S1096-7192(02)00228-7
Structural studies on phenylalanine hydroxylase and implications toward understanding and treating phenylketonuria, Pediatrics, vol.112, issue.6 2, pp.1557-65, 2003. ,
Phenylketonuria Scientific Review Conference: State of the science and future research needs, Molecular Genetics and Metabolism, vol.112, issue.2, pp.87-122, 2014. ,
DOI : 10.1016/j.ymgme.2014.02.013
The Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Correlation with Tetrahydrobiopterin (BH4) Responsiveness, TetrahydrobiopterinBH4) Responsiveness. JIMD Rep, vol.14, pp.55-65, 2014. ,
DOI : 10.1007/8904_2013_284
Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients, Journal of Inherited Metabolic Disease, vol.29, issue.1, pp.7-13, 2013. ,
DOI : 10.1002/humu.20637
Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population, Molecular Genetics and Metabolism, vol.102, issue.2, pp.116-137, 2011. ,
DOI : 10.1016/j.ymgme.2010.11.158
Splicing of phenylalanine hydroxylase (PAH) exon 11 is vulnerable: Molecular pathology of mutations in PAH exon 11, Molecular Genetics and Metabolism, vol.106, issue.4, pp.403-414, 2012. ,
DOI : 10.1016/j.ymgme.2012.05.013
Phenylketonuria mutations in Northern China, Molecular Genetics and Metabolism, vol.86, issue.1, pp.107-125, 2005. ,
DOI : 10.1016/j.ymgme.2005.09.001
Functional Analysis, Using in Vitro Mutagenesis, of Amino Acids Located in the Phenylalanine Hydroxylase Active Site, Archives of Biochemistry and Biophysics, vol.384, issue.2, pp.238-282, 2000. ,
DOI : 10.1006/abbi.2000.2111
) genotypes promotes personalised medicine in phenylketonuria, Journal of Medical Genetics, vol.15, issue.(Suppl), pp.175-85, 2015. ,
DOI : 10.1016/S0168-9525(99)01761-8
Functional and structural characterization of novel mutations and genotype-phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy, FEBS Journal, vol.47, issue.7, pp.2048-59, 2009. ,
DOI : 10.1107/S0108767390010224
Structural interpretation of mutations in phenylalanine hydroxylase protein aids in identifying genotype???phenotype correlations in phenylketonuria, European Journal of Human Genetics, vol.8, issue.9, pp.683-96, 2000. ,
DOI : 10.1038/sj.ejhg.5200518