［1］Scriver CR. Why mutation analysis does not always predict clinical consequences: explanations in the era of genomics［J］. J Pediatr, 2002, 140(5):502-506.
［2］Weglage J, Wiedermann D, Denecke J, Feldmann R, Koch HG, Ullrich K, et al. Individual blood-brain barrier phenylalanine transport in siblings with classical phenylketonuria［J］. J Inherit Metab Dis, 2002, 25(6):431-436.
［3］Giovannini M, Riva E, Salvatici E, Fiori L, Paci S, Verduci E, et al. Treating phenylketonuria: a single centre experience［J］. J Int Med Res, 2007, 35(6):742-752.
［4］Macdonald A, Lee P, Davies P, Daly A, Lilburn M, Gokmen Ozel H, et al. Long-term compliance with a novel vitamin and mineral supplement in older people with PKU［J］. J Inherit Metab Dis, 2008, 31（6）：718-723.
［5］Koch R, Moseley KD, Yano S, Nelson M Jr, Moats RA. Large neutral amino acid therapy and phenylketonuria: a promising approach to treatment［J］. Mol Genet Metab, 2003, 79(2):110-113.
［6］Bik-Multanowski M, Didycz B, Mozrzymas R, Nowacka M, Kaluzny L, Cichy W, et al. Quality of life in noncompliant adults with phenylketonuria after resumption of the diet［J］. J Inherit Metab Dis, 2009, 32（1）：126.
［7］Sitta A, Barschak AG, Deon M, de Mari JF, Barden AT, Vanzin CS, et al. L-carnitine blood levels and oxidative stress in treated phenylketonuric patients［J］. Cell Mol Neurobiol, 2009, 29(2):211-218.
［8］Leuzzi V, Pansini M, Sechi E, Chiarotti F, Carducci C, Levi G, et al. Executive function impairment in early-treated PKU subjects with normal mental development［J］. J Inherit Metab Dis, 2004, 27(2):115-125.
［9］MacDonald A, Daly A, Davies P, Asplin D, Hall SK, Rylance G, et al. Protein substitutes for PKU: what′s new? ［J］. J Inherit Metab Dis, 2004, 27(3):363-371.
［10］Kim W, Erlandsen H, Surendran S, Stevens RC, Gamez A, Michols-Matalon K, et al. Trends in enzyme therapy for phenylketonuria［J］. Mol Ther, 2004, 10(2):220-224.
［11］Levy HL. Phenylketonuria: old disease, new approach to treatment［J］. Proc Natl Acad Sci USA, 1999, 96(5):1811-1813.
［12］Ikeda K, Schiltz E, Fujii T, Takahashi M, Mitsui K, Kodera Y, et al. Phenylalanine ammonialyase modified with polyethylene glycol: potential therapeutic agent for phenylketonuria［J］. Amino Acids, 2005, 29(3):283-287.
［13］Kanai Y, Endou H. Functional properties of multispecific amino acid transporters and their implications to transporter-mediated toxicity［J］. J Toxicol Sci, 2003, 28(1):1-17.
［14］Matalon R, Surendran S, Matalon KM, Tyring S, Quast M, Jinga W, et al. Future role of large neutral amino acids in transport of phenylalanine into the brain［J］. Pediatrics, 2003, 112(6 Pt 2):1570-1574.
［15］Steinfeld R, Kohlschutter A, Ullrich K, Lukacs Z. Efficiency of long-term tetrahydrobiopterin monotherapy in phenylketonuria［J］. J Inherit Metab Dis, 2004, 27(4):449-453.
［16］Perez-Duenas B, Vilaseca MA, Mas A, Lambruschini N, Artuch R, Gómez L, et al. Tetrahydrobiopterin responsiveness in patients with phenylketonuria［J］. Clin Biochem, 2004, 37(12):1083-1090.
［17］Doggrell SA. Is sapropterin treatment suitable for all subjects with phenylketonuria?［J］. Expert Opin Pharmacother, 2008, 9(1):145-147.
［18］Levy HL, Milanowski A, Chakrapani A, Cleary M, Lee P, Trefz FK, et al. Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study［J］. Lancet, 2007, 370(9586):504-510.
［19］Burnett JR. Sapropterin dihydrochloride (Kuvan/phenoptin), an orally active synthetic form of BH4 for the treatment of phenylketonuria［J］. IDrugs, 2007, 10(11):805-813.
［20］Blau N, Erlandsen H. The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency［J］. Mol Genet Metab, 2004, 82(2):101-111.
［21］Eisensmith RC, Woo SL. Gene therapy for phenylketonuria［J］. Acta Paediatr, 1994, 407:124-129.
［22］Nagasaki Y, Matsubara Y, Takano H, Fujii K, Senoo M, Akanuma J, et al. Reversal of hypopigmentation in phenylketonuria mice by adenovirusmediated gene transfer［J］. Pediatr Res, 1999, 45(4 Pt 1):465-473.
［23］Eavri R, Lorberboum-Galski H. A novel approach for enzyme replacement therapy［J］. J Bio Chem, 2007, 282(32):23402-23409.
［24］Jung SC, Park JW, Oh HJ, Choi JO, Seo KI, Park ES, et al. Protective effect of recombinant adeno-associated virus 2/8-mediated gene therapy from the maternal hyperphenylalaninemia in offsprings of a mouse model of phenylketonuria［J］. J Korean Med Sci, 2008, 23(5):877-883.
［25］Christensen R, Alhonen L, Wahlfors J, Jakobsen M, Jensen TG. Characterization of transgenic mice with the expression of phenylalanine hydroxylase and GTP cyclohydrolase I in the skin［J］. Exp Dermatol, 2005, 14(7):535-542.
［26］Harding CO, Neff M, Jones K, Wild K, Wolff JA. Expression of phenylalanine hydroxylase (PAH) in erythrogenic bone marrow does not correct hyperphenylalaninemia in Pah(enu2) mice［J］. J Gene Med, 2003, 5(11):984-993.
［27］Pey AL, Ying M, Cremades N, Velazquez-Campoy A, Scherer T, Thony B, et al. Identification of pharmacological chaperones as potential therapeutic agents to treat phenylketonuria［J］. J Clin Invest, 2008, 118 (8):2858-2867.
［28］Nascimento C, Leandro J, Tavares de Almeida I, Leandro P. Modulation of the activity of newly synthesized human phenylalanine hydroxylase mutant proteins by low-molecular-weight compounds［J］. Protein J, 2008, 27(6):392-400.