5-year retrospective analysis of patients with phenylketonuria (PKU) and hyperphenylalaninemia treated at two specialized clinics

Vockley, 2014, Phenylalanine hydroxylase deficiency: diagnosis and management guideline, Genet. Med., 16, 188, 10.1038/gim.2013.157 Waisbren, 2007, Phenylalanine blood levels and clinical outcomes in phenylketonuria: a systematic literature review and meta-analysis, Mol. Genet. Metab., 92, 63, 10.1016/j.ymgme.2007.05.006 Regier, 1993, Phenylalanine hydroxylase deficiency van Spronsen, 2017, Key European guidelines for the diagnosis and management of patients with phenylketonuria, Lancet Diabetes Endocrinol., 5, 743, 10.1016/S2213-8587(16)30320-5 Moyle, 2007, Meta-analysis of neuropsychological symptoms of adolescents and adults with PKU, Neuropsychol. Rev., 17, 91, 10.1007/s11065-007-9021-2 Camp, 2014, Phenylketonuria scientific review conference: state of the science and future research needs, Mol. Genet. Metab., 112, 87, 10.1016/j.ymgme.2014.02.013 Levy, 2007, Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study, Lancet., 370, 504, 10.1016/S0140-6736(07)61234-3 Trefz, 2009, Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: a phase III, randomized, double-blind, placebo-controlled study, J. Pediatr., 154, 700, 10.1016/j.jpeds.2008.11.040 Ney, 2016, Glycomacropeptide for nutritional management of phenylketonuria: a randomized, controlled, crossover trial, Am. J. Clin. Nutr., 104, 334, 10.3945/ajcn.116.135293 Pietz, 1999, Large neutral amino acids block phenylalanine transport into brain tissue in patients with phenylketonuria, J. Clin. Invest., 103, 1169, 10.1172/JCI5017 Brown, 2016, Phenylketonuria (PKU): a problem solved?, Mol. Genet. Metab. Rep., 6, 8, 10.1016/j.ymgmr.2015.12.004 Chace, 1998, Use of phenylalanine-to-tyrosine ratio determined by tandem mass spectrometry to improve newborn screening for phenylketonuria of early discharge specimens collected in the first 24 hours, Clin. Chem., 44, 2405, 10.1093/clinchem/44.12.2405 Somaraju, 2015, Sapropterin dihydrochloride for phenylketonuria, Cochrane Database Syst. Rev., 3 Burton, 2018, Prevalence of comorbid conditions among adult patients diagnosed with phenylketonuria, Mol. Genet. Metab., 125, 228, 10.1016/j.ymgme.2018.09.006 Trefz, 2019, Clinical burden of illness in patients with phenylketonuria (PKU) and associated comorbidities-a retrospective study of German health insurance claims data, Orphanet. J. Rare Dis., 14, 181, 10.1186/s13023-019-1153-y Gazit, 2016, Metabolite amyloids:a new paradigm for inborn errors of metabolism, J. Inherit. Metab. Dis., 39, 483, 10.1007/s10545-016-9946-9 van Vliet, 2018, Can untreated PKU patients escape from intellectual disability? A systematic review, Orphanet. J. Rare Dis., 13, 149, 10.1186/s13023-018-0890-7 Thomas, 2018, Pegvaliase for the treatment of phenylketonuria: results of a long-term phase 3 clinical trial program (PRISM), Mol. Genet. Metab., 124, 27, 10.1016/j.ymgme.2018.03.006 Himmelreich, 2018, Relationship between genotype, phenylalanine hydroxylase expression and in vitro activity and metabolic phenotype in phenylketonuria, Mol. Genet. Metab., 125, 86, 10.1016/j.ymgme.2018.06.011