Phenylketonuria sapropterin

Levy HL, et al. Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria a phase 111 randomised placebo-controlled study. Lancet. 2007 370(9586) 504-10. 

Lee P, et al. Safety and efficacy of 22 weeks of treatment with sapropterin dihydrochloride in patients with phenylketonuria. Am J Med Genet A. 2008 146A(22) 2851-9. 

Longo L. et al. Long-term developmental progression in infants and young children taking sapropterin for phenylketonuria a two-year analysis of safety and efficacy. Gen in Med. 2014. doi 10.1038/gim.2014.109 (in press). 

Burton B, et al. A randomized, placebo-controUed, double-bhnd study of sapropterin to treat ADHD symptoms and executive function impairment in children and adults with sapropterin-responsive phenylketonuria Mol Genet Metab. 2014. http //dx.doi.org/10.1016/ j.ymgme.2014.11.011. 

Keil S, et al. Long-term foUow-up and outcome of phenylketonuria patients on sapropterin a retrospective study. Pediatrics. 2013 131(6) el881-8. 

Douglas TD, et al. Longitudinal quality of life analysis in a phenylketonuria cohort provided sapropterin dihydrochloride. Health Qual life Outcomes. 2013 1 218. 

Grange DK, et al. Sapropterin dihydrochloride use in pregnant women with phenylketonuria an interim report of the PKU MOMS sub-registry. Mol Genet Metab. 2014 112(1) 9-16. 

Systematic reviews In a review of a placebo-controlled trial of sapropterin in 89 children and adults with phenylketonuria whose diets were not restricted and who had previously responded to sapropterin and a trial in 90 children aged 4-12 years with phenylketonuria whose diet was restricted, there was a significant fall in blood phenylalanine concentration with sapropterin in the first and a non-significant fall in the second no serious adverse events were associated with short-term sapropterin... 

Somaraju UR, Merrin M. Sapropterin dihydrochloride for phenylketonuria. Cochrane Database Syst Rev 2010 (6) CD008005. 

Lee P, Treacy EP, Crombez E, Wasserstein M, Waber L, Wolff J, Wendel U, Dorenbaum A, Bebchuk J, Christ-Schmidt H, Seashore M, Giovannini M, Burton BK, Morris AA. Sapropterin Research Group. Safety and efficacy of 22 weeks of treatment with sapropterin dihydrochloride in patients with phenylketonuria. Am J Med Genet A 2008 146A(22) 2851-9. 

Systematic reviews The efficacy and safety of sapropterin dihydrochloride in lowering phenylalanine concentration in patients with phenylketonuria has been systematically reviewed [21 ]. Two trials including a total of 135 participants were included in the analysis. No serious adverse events were associated with the use of sapropterin on the short-term. 

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