Does the 48-hour BH4 loading test miss responsive PKU patients?
Tài liệu tham khảo
Blau, 2010, Phenylketonuria, Lancet, 376, 1417, 10.1016/S0140-6736(10)60961-0
Lindegren, 2013, A systematic review of BH4 (Sapropterin) for the adjuvant treatment of phenylketonuria, JIMD Rep., 8, 109, 10.1007/8904_2012_168
Somaraju, 2015, Sapropterin dihydrochloride for phenylketonuria, Cochrane Database Syst. Rev., 3
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
van Wegberg, 2017, The complete European guidelines on phenylketonuria: diagnosis and treatment, Orphanet J. Rare Dis., 12, 10.1186/s13023-017-0685-2
Levy, 2007, Recommendations for evaluation of responsiveness to tetrahydrobiopterin (BH(4)) in phenylketonuria and its use in treatment, Mol. Genet. Metab., 92, 287, 10.1016/j.ymgme.2007.09.017
Anjema, 2013, Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype, Orphanet J. Rare Dis., 8, 103, 10.1186/1750-1172-8-103
Nielsen, 2010, Tetrahydrobiopterin responsiveness after extended loading test of 12 Danish PKU patients with the Y414C mutation, J. Inherit. Metab. Dis., 33, 9, 10.1007/s10545-009-9002-0
Ziesch, 2012, Tetrahydrobiopterin (BH4) in PKU: effect on dietary treatment, metabolic control, and quality of life, J. Inherit. Metab. Dis., 35, 983, 10.1007/s10545-012-9458-1
Shintaku, 2004, Long-term treatment and diagnosis of tetrahydrobiopterin-responsive hyperphenylalaninemia with a mutant phenylalanine hydroxylase gene, Pediatr. Res., 55, 425, 10.1203/01.PDR.0000111283.91564.7E
Blau, 2009, Optimizing the use of sapropterin (BH(4)) in the management of phenylketonuria, Mol. Genet. Metab., 96, 158, 10.1016/j.ymgme.2009.01.002
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
Evers R.A.F., et al., Defining Tetrahydrobiopterin Responsiveness in Phenylketonuria: Survey Results from 38 Countries, n.d. (Submitted).
van Spronsen, 2012
MacDonald, 1998, Does a single plasma phenylalanine predict quality of control in phenylketonuria?, Arch. Dis. Child., 78, 122, 10.1136/adc.78.2.122
Leuzzi, 2006, The spectrum of phenylalanine variations under tetrahydrobiopterin load in subjects affected by phenylalanine hydroxylase deficiency, J. Inherit. Metab. Dis., 29, 38, 10.1007/s10545-006-0096-3
Muntau, 2002, Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria, N. Engl. J. Med., 347, 2122, 10.1056/NEJMoa021654
Trefz, 2009, Significance of genotype in tetrahydrobiopterin-responsive phenylketonuria, J. Inherit. Metab. Dis., 32, 22, 10.1007/s10545-008-0940-8
FAO/WHO/UNU, 2007
Evers, 2019, The first European guidelines on phenylketonuria: its usefulness and implications for BH4 responsiveness testing, J. Inherit. Metab. Dis.
Anjema, 2011, The 48-hour tetrahydrobiopterin loading test in patients with phenylketonuria: evaluation of protocol and influence of baseline phenylalanine concentration, Mol. Genet. Metab., 104, S60, 10.1016/j.ymgme.2011.09.024