메뉴 건너뛰기




Volumn 2, Issue 4, 2012, Pages 223-237

Clinical therapeutics for phenylketonuria

Author keywords

Hyperphenylalaninemia; Phenylalanine; Phenylalanine ammonia lyase; Phenylalanine hydroxylase; Phenylketonuria

Indexed keywords

2,4 BIS(O METHOXYPOLYETHYLENEGLYCOL) 6 CHLORO STRIAZINE; ADENOASSOCIATED VIRUS VECTOR 2; ADENOASSOCIATED VIRUS VECTOR 5; ADENOASSOCIATED VIRUS VECTOR 8; AMINO ACID DERIVATIVE; CALCIUM ALGINATE; GLYCOPROTEIN; MACROGOL; PARVOVIRUS VECTOR; PHENYLALANINE; PHENYLALANINE 4 MONOOXYGENASE; PHENYLALANINE AMMONIA LYASE; PLASMID DNA; SAPROPTERIN; SMALL INTERFERING RNA; TETRAHYDROBIOPTERIN; UNCLASSIFIED DRUG;

EID: 84866158897     PISSN: 2190393X     EISSN: 21903948     Source Type: Journal    
DOI: 10.1007/s13346-012-0067-1     Document Type: Review
Times cited : (3)

References (178)
  • 1
    • 0037872015 scopus 로고    scopus 로고
    • Asbjorn Folling and the discovery of phenylketonuria
    • Christ SE. Asbjorn Folling and the discovery of phenylketonuria. J Hist Neurosci. 2003; 12(1): 44-54.
    • (2003) J Hist Neurosci , vol.12 , Issue.1 , pp. 44-54
    • Christ, S.E.1
  • 2
    • 0021918515 scopus 로고
    • Nucleotide sequence of a full-length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylase
    • Kwok SC, Ledley FD, DiLella AG, Robson KJ, Woo SL. Nucleotide sequence of a full-length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylase. Biochemistry. 1985; 24(3): 556-61.
    • (1985) Biochemistry , vol.24 , Issue.3 , pp. 556-561
    • Kwok, S.C.1    Ledley, F.D.2    DiLella, A.G.3    Robson, K.J.4    Woo, S.L.5
  • 5
    • 0032980507 scopus 로고    scopus 로고
    • A model of human phenylalanine metabolism in normal subjects and in phenylketonuric patients
    • Kaufman S. A model of human phenylalanine metabolism in normal subjects and in phenylketonuric patients. Proc Natl Acad Sci USA. 1999; 96(6): 3160-4.
    • (1999) Proc Natl Acad Sci USA , vol.96 , Issue.6 , pp. 3160-3164
    • Kaufman, S.1
  • 6
    • 79952449396 scopus 로고    scopus 로고
    • Tyrosine hydroxylase and regulation of dopamine synthesis
    • Daubner SC, Le T, Wang S. Tyrosine hydroxylase and regulation of dopamine synthesis. Arch Biochem Biophys. 2011; 508(1): 1-12.
    • (2011) Arch Biochem Biophys , vol.508 , Issue.1 , pp. 1-12
    • Daubner, S.C.1    Le, T.2    Wang, S.3
  • 8
    • 34249803298 scopus 로고    scopus 로고
    • Management of phenylketonuria and hyperphenylalaninemia
    • discussion 1573S-1575S
    • de Baulny HO, Abadie V, Feillet F, de Parscau L. Management of phenylketonuria and hyperphenylalaninemia. J Nutr. 2007; 137(6 Suppl 1): 1561S-3S. discussion 1573S-1575S.
    • (2007) J Nutr , vol.137 , Issue.6 SUPPL. 1
    • de Baulny, H.O.1    Abadie, V.2    Feillet, F.3    de Parscau, L.4
  • 9
    • 47149088106 scopus 로고    scopus 로고
    • Progress toward cell-directed therapy for phenylketonuria
    • Harding CO. Progress toward cell-directed therapy for phenylketonuria. Clin Genet. 2008; 74(2): 97-104.
    • (2008) Clin Genet , vol.74 , Issue.2 , pp. 97-104
    • Harding, C.O.1
  • 10
    • 84858700380 scopus 로고    scopus 로고
    • Quantification of phenylalanine hydroxylase activity by isotope-dilution liquid chromatography-electrospray ionization tandem mass spectrometry
    • Heintz C, Troxler H, Martinez A, Thony B, Blau N. Quantification of phenylalanine hydroxylase activity by isotope-dilution liquid chromatography-electrospray ionization tandem mass spectrometry. Mol Genet Metab. 2012; 105(4): 559-65.
    • (2012) Mol Genet Metab , vol.105 , Issue.4 , pp. 559-565
    • Heintz, C.1    Troxler, H.2    Martinez, A.3    Thony, B.4    Blau, N.5
  • 11
    • 33748367238 scopus 로고    scopus 로고
    • Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase
    • Thony B, Blau N. Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase. Hum Mutat. 2006; 27(9): 870-8.
    • (2006) Hum Mutat , vol.27 , Issue.9 , pp. 870-878
    • Thony, B.1    Blau, N.2
  • 12
    • 0034193589 scopus 로고    scopus 로고
    • Measurement of phenyllactate, phenylacetate, and phenylpyruvate by negative ion chemical ionization-gas chromatography/mass spectrometry in brain of mouse genetic models of phenylketonuria and non-phenylketonuria hyperphenylalaninemia
    • Sarkissian CN, Scriver CR, Mamer OA. Measurement of phenyllactate, phenylacetate, and phenylpyruvate by negative ion chemical ionization-gas chromatography/mass spectrometry in brain of mouse genetic models of phenylketonuria and non-phenylketonuria hyperphenylalaninemia. Anal Biochem. 2000; 280(2): 242-9.
    • (2000) Anal Biochem , vol.280 , Issue.2 , pp. 242-249
    • Sarkissian, C.N.1    Scriver, C.R.2    Mamer, O.A.3
  • 13
    • 77954225661 scopus 로고    scopus 로고
    • Novel approaches to the therapy of phenylketonuria
    • Eavri R, Lorberboum-Galski H. Novel approaches to the therapy of phenylketonuria. Ann Nestle. 2010; 68(2): 70-7.
    • (2010) Ann Nestle , vol.68 , Issue.2 , pp. 70-77
    • Eavri, R.1    Lorberboum-Galski, H.2
  • 14
    • 79958048557 scopus 로고    scopus 로고
    • Experimental evidence that phenylalanine is strongly associated to oxidative stress in adolescents and adults with phenylketonuria
    • Sanayama Y, Okano Y, Nagasaka H, Takayanagi M, Ohura T, Sakamoto O, et al. Experimental evidence that phenylalanine is strongly associated to oxidative stress in adolescents and adults with phenylketonuria. Mol Genet Metab. 2011; 103(3): 220-5.
    • (2011) Mol Genet Metab , vol.103 , Issue.3 , pp. 220-225
    • Sanayama, Y.1    Okano, Y.2    Nagasaka, H.3    Takayanagi, M.4    Ohura, T.5    Sakamoto, O.6
  • 15
    • 61849155430 scopus 로고    scopus 로고
    • Phenylketonuria: an inborn error of phenylalanine metabolism
    • Williams RA, Mamotte CD, Burnett JR. Phenylketonuria: an inborn error of phenylalanine metabolism. Clin Biochem Rev. 2008; 29(1): 31-41.
    • (2008) Clin Biochem Rev , vol.29 , Issue.1 , pp. 31-41
    • Williams, R.A.1    Mamotte, C.D.2    Burnett, J.R.3
  • 16
    • 77955887072 scopus 로고    scopus 로고
    • Phenylketonuria: a 21st century perspective
    • van Spronsen FJ. Phenylketonuria: a 21st century perspective. Nat Rev Endocrinol. 2010; 6(9): 509-14.
    • (2010) Nat Rev Endocrinol , vol.6 , Issue.9 , pp. 509-514
    • van Spronsen, F.J.1
  • 17
    • 0027533685 scopus 로고
    • Report of Medical Research Council Working Party on Phenylketonuria
    • Anonymous, Recommendations on the dietary management of phenylketonuria
    • Anonymous. Recommendations on the dietary management of phenylketonuria. Report of Medical Research Council Working Party on Phenylketonuria. Arch Dis Child. 1993; 68(3): 426-7.
    • (1993) Arch Dis Child , vol.68 , Issue.3 , pp. 426-427
  • 18
    • 0033003339 scopus 로고    scopus 로고
    • Rationale for the German recommendations for phenylalanine level control in phenylketonuria 1997
    • Burgard P, Bremer HJ, Buhrdel P, Clemens PC, Monch E, Przyrembel H, et al. Rationale for the German recommendations for phenylalanine level control in phenylketonuria 1997. Eur J Pediatr. 1999; 158(1): 46-54.
    • (1999) Eur J Pediatr , vol.158 , Issue.1 , pp. 46-54
    • Burgard, P.1    Bremer, H.J.2    Buhrdel, P.3    Clemens, P.C.4    Monch, E.5    Przyrembel, H.6
  • 19
    • 0033834982 scopus 로고    scopus 로고
    • Survey of national guidelines for the treatment of phenylketonuria
    • Schweitzer-Krantz S, Burgard P. Survey of national guidelines for the treatment of phenylketonuria. Eur J Pediatr. 2000; 159 Suppl 2: S70-3.
    • (2000) Eur J Pediatr , vol.159 , Issue.SUPPL. 2
    • Schweitzer-Krantz, S.1    Burgard, P.2
  • 22
    • 50449135748 scopus 로고
    • Influence of phenylalanine intake on phenylketonuria
    • Bickel H, Gerrard J, Hickmans EM. Influence of phenylalanine intake on phenylketonuria. Lancet. 1953; 265(6790): 812.
    • (1953) Lancet , vol.265 , Issue.6790 , pp. 812
    • Bickel, H.1    Gerrard, J.2    Hickmans, E.M.3
  • 23
    • 75449123150 scopus 로고
    • A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants
    • Guthrie R, Susi A. A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants. Pediatrics. 1963; 32: 338-43.
    • (1963) Pediatrics , vol.32 , pp. 338-343
    • Guthrie, R.1    Susi, A.2
  • 24
    • 77954238134 scopus 로고    scopus 로고
    • Screening for phenylketonuria
    • Bodamer OA. Screening for phenylketonuria. Ann Nestle. 2010; 68(2): 53-7.
    • (2010) Ann Nestle , vol.68 , Issue.2 , pp. 53-57
    • Bodamer, O.A.1
  • 25
    • 0025129387 scopus 로고
    • Tandem mass spectrometry: a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism
    • Millington DS, Kodo N, Norwood DL, Roe CR. Tandem mass spectrometry: a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism. J Inherit Metab Dis. 1990; 13(3): 321-4.
    • (1990) J Inherit Metab Dis , vol.13 , Issue.3 , pp. 321-324
    • Millington, D.S.1    Kodo, N.2    Norwood, D.L.3    Roe, C.R.4
  • 26
    • 36148953590 scopus 로고    scopus 로고
    • Recommendations for evaluation of responsiveness to tetrahydrobiopterin (BH(4)) in phenylketonuria and its use in treatment
    • Levy H, Burton B, Cederbaum S, Scriver C. Recommendations for evaluation of responsiveness to tetrahydrobiopterin (BH(4)) in phenylketonuria and its use in treatment. Mol Genet Metab. 2007; 92(4): 287-91.
    • (2007) Mol Genet Metab , vol.92 , Issue.4 , pp. 287-291
    • Levy, H.1    Burton, B.2    Cederbaum, S.3    Scriver, C.4
  • 28
    • 0027219375 scopus 로고
    • Differential diagnosis of hyperphenylalaninaemia by a combined phenylalanine-tetrahydrobiopterin loading test
    • Ponzone A, Guardamagna O, Spada M, Ferraris S, Ponzone R, Kierat L, et al. Differential diagnosis of hyperphenylalaninaemia by a combined phenylalanine-tetrahydrobiopterin loading test. Eur J Pediatr. 1993; 152(8): 655-61.
    • (1993) Eur J Pediatr , vol.152 , Issue.8 , pp. 655-661
    • Ponzone, A.1    Guardamagna, O.2    Spada, M.3    Ferraris, S.4    Ponzone, R.5    Kierat, L.6
  • 29
    • 82755189438 scopus 로고    scopus 로고
    • Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies
    • Blau N, Hennermann JB, Langenbeck U, Lichter-Konecki U. Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies. Mol Genet Metab. 2011; 104(Suppl): S2-9.
    • (2011) Mol Genet Metab , vol.104 , Issue.SUPPL.
    • Blau, N.1    Hennermann, J.B.2    Langenbeck, U.3    Lichter-Konecki, U.4
  • 30
    • 38849083411 scopus 로고    scopus 로고
    • Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency
    • Jaggi L, Zurfluh MR, Schuler A, Ponzone A, Porta F, Fiori L, et al. Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency. Mol Genet Metab. 2008; 93(3): 295-305.
    • (2008) Mol Genet Metab , vol.93 , Issue.3 , pp. 295-305
    • Jaggi, L.1    Zurfluh, M.R.2    Schuler, A.3    Ponzone, A.4    Porta, F.5    Fiori, L.6
  • 31
    • 77649159261 scopus 로고    scopus 로고
    • Digital microfluidics: a future technology in the newborn screening laboratory?
    • Millington DS, Sista R, Eckhardt A, Rouse J, Bali D, Goldberg R, et al. Digital microfluidics: a future technology in the newborn screening laboratory? Semin Perinatol. 2010; 34(2): 163-9.
    • (2010) Semin Perinatol , vol.34 , Issue.2 , pp. 163-169
    • Millington, D.S.1    Sista, R.2    Eckhardt, A.3    Rouse, J.4    Bali, D.5    Goldberg, R.6
  • 32
    • 0032337559 scopus 로고    scopus 로고
    • Inborn errors of metabolism in infancy: a guide to diagnosis
    • Burton BK. Inborn errors of metabolism in infancy: a guide to diagnosis. Pediatrics. 1998; 102(6): E69.
    • (1998) Pediatrics , vol.102 , Issue.6
    • Burton, B.K.1
  • 33
    • 84866171389 scopus 로고    scopus 로고
    • American College of Medical Genetics and Genomics (ACMG), Accessed 6 July 2011
    • American College of Medical Genetics and Genomics (ACMG). 2011. http://www. acmg. net/StaticContent/ACT/Algorithms/Visio-Phenylalanine. pdf. Accessed 6 July 2011.
    • (2011)
  • 34
    • 84866146300 scopus 로고    scopus 로고
    • National Institutes of Health (NIH) US, Accessed 26 April 2012
    • National Institutes of Health (NIH) US. 2011. http://www. clinicaltrials. gov/ct2/results?term=Phenylketonuria+AND+phenylalanine+ammonia+lyase. Accessed 26 April 2012.
    • (2011)
  • 35
    • 72249098974 scopus 로고    scopus 로고
    • Future treatment strategies in phenylketonuria
    • van Spronsen FJ, Enns GM. Future treatment strategies in phenylketonuria. Mol Genet Metab. 2010; 99 Suppl 1: S90-5.
    • (2010) Mol Genet Metab , vol.99 , Issue.SUPPL. 1
    • van Spronsen, F.J.1    Enns, G.M.2
  • 36
    • 59749100558 scopus 로고    scopus 로고
    • What we know that could influence future treatment of phenylketonuria
    • Sarkissian CN, Gamez A, Scriver CR. What we know that could influence future treatment of phenylketonuria. J Inherit Metab Dis. 2009; 32(1): 3-9.
    • (2009) J Inherit Metab Dis , vol.32 , Issue.1 , pp. 3-9
    • Sarkissian, C.N.1    Gamez, A.2    Scriver, C.R.3
  • 37
    • 28944448887 scopus 로고    scopus 로고
    • Phenylalanine ammonia lyase, enzyme substitution therapy for phenylketonuria, where are we now?
    • Sarkissian CN, Gamez A. Phenylalanine ammonia lyase, enzyme substitution therapy for phenylketonuria, where are we now? Mol Genet Metab. 2005; 86 Suppl 1: S22-6.
    • (2005) Mol Genet Metab , vol.86 , Issue.SUPPL. 1
    • Sarkissian, C.N.1    Gamez, A.2
  • 38
    • 0002424530 scopus 로고
    • Treatment of phenylketonuria with a diet low in phenylalanine
    • Woolf LI, Griffiths R, Moncrieff A. Treatment of phenylketonuria with a diet low in phenylalanine. Br Med J. 1955; 1(4905): 57-64.
    • (1955) Br Med J , vol.1 , Issue.4905 , pp. 57-64
    • Woolf, L.I.1    Griffiths, R.2    Moncrieff, A.3
  • 39
    • 0001711681 scopus 로고
    • Studies on phenylketonuria. I. Restricted phenylalanine intake in phenylketonuria
    • Armstrong MD, Tyler FH. Studies on phenylketonuria. I. Restricted phenylalanine intake in phenylketonuria. J Clin Invest. 1955; 34(4): 565-80.
    • (1955) J Clin Invest , vol.34 , Issue.4 , pp. 565-580
    • Armstrong, M.D.1    Tyler, F.H.2
  • 40
    • 0016279991 scopus 로고
    • Natural history of phenylketonuria and influence of early treatment
    • Smith I, Wolff OH. Natural history of phenylketonuria and influence of early treatment. Lancet. 1974; 2(7880): 540-4.
    • (1974) Lancet , vol.2 , Issue.7880 , pp. 540-544
    • Smith, I.1    Wolff, O.H.2
  • 42
    • 0033826876 scopus 로고    scopus 로고
    • Diet and compliance in phenylketonuria
    • MacDonald A. Diet and compliance in phenylketonuria. Eur J Pediatr. 2000; 159: S136-41.
    • (2000) Eur J Pediatr , vol.159
    • MacDonald, A.1
  • 43
    • 0037031064 scopus 로고    scopus 로고
    • How practical are recommendations for dietary control in phenylketonuria?
    • Walter JH, White FJ, Hall SK, MacDonald A, Rylance G, Boneh A, et al. How practical are recommendations for dietary control in phenylketonuria? Lancet. 2002; 360(9326): 55-7.
    • (2002) Lancet , vol.360 , Issue.9326 , pp. 55-57
    • Walter, J.H.1    White, F.J.2    Hall, S.K.3    MacDonald, A.4    Rylance, G.5    Boneh, A.6
  • 45
    • 42549100298 scopus 로고    scopus 로고
    • Evaluation of quality of life and description of the sociodemographic state in adolescent and young adult patients with phenylketonuria (PKU)
    • Simon E, Schwarz M, Roos J, Dragano N, Geraedts M, Siegrist J, et al. Evaluation of quality of life and description of the sociodemographic state in adolescent and young adult patients with phenylketonuria (PKU). Health Qual Life Outcomes. 2008; 6: 25.
    • (2008) Health Qual Life Outcomes , vol.6 , pp. 25
    • Simon, E.1    Schwarz, M.2    Roos, J.3    Dragano, N.4    Geraedts, M.5    Siegrist, J.6
  • 46
    • 0036085533 scopus 로고    scopus 로고
    • Quality of life and psychologic adjustment in children and adolescents with early treated phenylketonuria can be normal
    • Landolt MA, Nuoffer JM, Steinmann B, Superti-Furga A. Quality of life and psychologic adjustment in children and adolescents with early treated phenylketonuria can be normal. J Pediatr. 2002; 140(5): 516-21.
    • (2002) J Pediatr , vol.140 , Issue.5 , pp. 516-521
    • Landolt, M.A.1    Nuoffer, J.M.2    Steinmann, B.3    Superti-Furga, A.4
  • 47
    • 79955842584 scopus 로고    scopus 로고
    • High phenylalanine levels directly affect mood and sustained attention in adults with phenylketonuria: a randomised, double-blind, placebo-controlled, crossover trial
    • ten Hoedt AE, de Sonneville LM, Francois B, ter Horst NM, Janssen MC, Rubio-Gozalbo ME, et al. High phenylalanine levels directly affect mood and sustained attention in adults with phenylketonuria: a randomised, double-blind, placebo-controlled, crossover trial. J Inherit Metab Dis. 2011; 34(1): 165-71.
    • (2011) J Inherit Metab Dis , vol.34 , Issue.1 , pp. 165-171
    • ten Hoedt, A.E.1    de Sonneville, L.M.2    Francois, B.3    ter Horst, N.M.4    Janssen, M.C.5    Rubio-Gozalbo, M.E.6
  • 49
    • 0025346883 scopus 로고
    • Intelligence and quality of dietary treatment in phenylketonuria
    • Smith I, Beasley MG, Ades AE. Intelligence and quality of dietary treatment in phenylketonuria. Arch Dis Child. 1990; 65(5): 472-8.
    • (1990) Arch Dis Child , vol.65 , Issue.5 , pp. 472-478
    • Smith, I.1    Beasley, M.G.2    Ades, A.E.3
  • 51
    • 5344249425 scopus 로고    scopus 로고
    • Nutrient intakes and physical growth of children with phenylketonuria undergoing nutrition therapy
    • Acosta PB, Yannicelli S, Singh R, Mofidi S, Steiner R, DeVincentis E, et al. Nutrient intakes and physical growth of children with phenylketonuria undergoing nutrition therapy. J Am Diet Assoc. 2003; 103(9): 1167-73.
    • (2003) J Am Diet Assoc , vol.103 , Issue.9 , pp. 1167-1173
    • Acosta, P.B.1    Yannicelli, S.2    Singh, R.3    Mofidi, S.4    Steiner, R.5    DeVincentis, E.6
  • 52
    • 1942540768 scopus 로고    scopus 로고
    • Iron status of children with phenylketonuria undergoing nutrition therapy assessed by transferrin receptors
    • Acosta PB, Yannicelli S, Singh RH, Elsas LJ, Mofidi S, Steiner RD. Iron status of children with phenylketonuria undergoing nutrition therapy assessed by transferrin receptors. Genet Med. 2004; 6(2): 96-101.
    • (2004) Genet Med , vol.6 , Issue.2 , pp. 96-101
    • Acosta, P.B.1    Yannicelli, S.2    Singh, R.H.3    Elsas, L.J.4    Mofidi, S.5    Steiner, R.D.6
  • 53
    • 0031885163 scopus 로고    scopus 로고
    • Decreased trabecular bone mineral density in patients with phenylketonuria measured by peripheral quantitative computed tomography
    • Schwahn B, Mokov E, Scheidhauer K, Lettgen B, Schonau E. Decreased trabecular bone mineral density in patients with phenylketonuria measured by peripheral quantitative computed tomography. Acta Paediatr. 1998; 87(1): 61-3.
    • (1998) Acta Paediatr , vol.87 , Issue.1 , pp. 61-63
    • Schwahn, B.1    Mokov, E.2    Scheidhauer, K.3    Lettgen, B.4    Schonau, E.5
  • 56
    • 0029786261 scopus 로고    scopus 로고
    • Recommendations for protein and amino acid intake in phenylketonuric patients
    • Cockburn F, Clark BJ. Recommendations for protein and amino acid intake in phenylketonuric patients. Eur J Pediatr. 1996; 155: S125-9.
    • (1996) Eur J Pediatr , vol.155
    • Cockburn, F.1    Clark, B.J.2
  • 57
    • 0034790129 scopus 로고    scopus 로고
    • National Institutes of Health Consensus Development Conference Statement: phenylketonuria: Screening and management
    • National Institutes of Health Consensus Development Panel, October 16-18, 2000
    • National Institutes of Health Consensus Development Panel. National Institutes of Health Consensus Development Conference Statement: phenylketonuria: screening and management, October 16-18, 2000. Pediatrics. 2001; 108(4): 972-82.
    • (2001) Pediatrics , vol.108 , Issue.4 , pp. 972-982
  • 58
    • 80051675515 scopus 로고    scopus 로고
    • Tetrahydrobiopterin: biochemistry and pathophysiology
    • Werner ER, Blau N, Thony B. Tetrahydrobiopterin: biochemistry and pathophysiology. Biochem J. 2011; 438(3): 397-414.
    • (2011) Biochem J , vol.438 , Issue.3 , pp. 397-414
    • Werner, E.R.1    Blau, N.2    Thony, B.3
  • 59
  • 60
    • 67349085037 scopus 로고    scopus 로고
    • Disorders of biopterin metabolism
    • Longo N. Disorders of biopterin metabolism. J Inherit Metab Dis. 2009; 32(3): 333-42.
    • (2009) J Inherit Metab Dis , vol.32 , Issue.3 , pp. 333-342
    • Longo, N.1
  • 61
    • 0000138089 scopus 로고    scopus 로고
    • Disorders of tetrahydrobiopterin and related biogenic amines
    • C. R. Scriver, A. L. Beaudet, W. S. Sly, D. Valle, B. Childs, and B. Vogelstein (Eds.), New York: McGraw-Hill
    • Blau N, Thöny B, Cotton RGH, Hyland K. Disorders of tetrahydrobiopterin and related biogenic amines. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Vogelstein B, editors. The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill; 2001. p. 1725-76.
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 1725-1776
    • Blau, N.1    Thöny, B.2    Cotton, R.G.H.3    Hyland, K.4
  • 62
    • 0029681568 scopus 로고    scopus 로고
    • Tetrahydrobiopterin and inherited hyperphenylalaninemias
    • Blau N, Thony B, Spada M, Ponzone A. Tetrahydrobiopterin and inherited hyperphenylalaninemias. Turkish J Pediatr. 1996; 38(1): 19-35.
    • (1996) Turkish J Pediatr , vol.38 , Issue.1 , pp. 19-35
    • Blau, N.1    Thony, B.2    Spada, M.3    Ponzone, A.4
  • 63
    • 0018050753 scopus 로고
    • Malignant hyperphenylalaninaemia. Current status (June 1977)
    • Danks DM, Bartholome K, Clayton BE. Malignant hyperphenylalaninaemia. Current status (June 1977). J Inherit Metab Dis. 1978; 1(2): 49-53.
    • (1978) J Inherit Metab Dis , vol.1 , Issue.2 , pp. 49-53
    • Danks, D.M.1    Bartholome, K.2    Clayton, B.E.3
  • 64
    • 0033504353 scopus 로고    scopus 로고
    • Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency
    • Kure S, Hou DC, Ohura T, Iwamoto H, Suzuki S, Sugiyama N, et al. Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. J Pediatr. 1999; 135(3): 375-8.
    • (1999) J Pediatr , vol.135 , Issue.3 , pp. 375-378
    • Kure, S.1    Hou, D.C.2    Ohura, T.3    Iwamoto, H.4    Suzuki, S.5    Sugiyama, N.6
  • 66
    • 2542429299 scopus 로고    scopus 로고
    • The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency
    • Blau N, Erlandsen H. The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Mol Genet Metab. 2004; 82(2): 101-11.
    • (2004) Mol Genet Metab , vol.82 , Issue.2 , pp. 101-111
    • Blau, N.1    Erlandsen, H.2
  • 67
    • 46149093432 scopus 로고    scopus 로고
    • Loss of function in phenylketonuria is caused by impaired molecular motions and conformational instability
    • Gersting SW, Kemter KF, Staudigl M, Messing DD, Danecka MK, Lagler FB, et al. Loss of function in phenylketonuria is caused by impaired molecular motions and conformational instability. Am J Hum Genet. 2008; 83(1): 5-17.
    • (2008) Am J Hum Genet , vol.83 , Issue.1 , pp. 5-17
    • Gersting, S.W.1    Kemter, K.F.2    Staudigl, M.3    Messing, D.D.4    Danecka, M.K.5    Lagler, F.B.6
  • 68
    • 10044279157 scopus 로고    scopus 로고
    • Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations
    • Erlandsen H, Pey AL, Gamez A, Perez B, Desviat LR, Aguado C, et al. Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations. Proc Natl Acad Sci USA. 2004; 101(48): 16903-8.
    • (2004) Proc Natl Acad Sci USA , vol.101 , Issue.48 , pp. 16903-16908
    • Erlandsen, H.1    Pey, A.L.2    Gamez, A.3    Perez, B.4    Desviat, L.R.5    Aguado, C.6
  • 69
    • 4744342508 scopus 로고    scopus 로고
    • Wild-type phenylalanine hydroxylase activity is enhanced by tetrahydrobiopterin supplementation in vivo: an implication for therapeutic basis of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency
    • Kure S, Sato K, Fujii K, Aoki Y, Suzuki Y, Kato S, et al. Wild-type phenylalanine hydroxylase activity is enhanced by tetrahydrobiopterin supplementation in vivo: an implication for therapeutic basis of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Mol Genet Metab. 2004; 83(1-2): 150-6.
    • (2004) Mol Genet Metab , vol.83 , Issue.1-2 , pp. 150-156
    • Kure, S.1    Sato, K.2    Fujii, K.3    Aoki, Y.4    Suzuki, Y.5    Kato, S.6
  • 70
    • 79952548103 scopus 로고    scopus 로고
    • Phenylketonuria as a model for protein misfolding diseases and for the development of next generation orphan drugs for patients with inborn errors of metabolism
    • Muntau AC, Gersting SW. Phenylketonuria as a model for protein misfolding diseases and for the development of next generation orphan drugs for patients with inborn errors of metabolism. J Inherit Metab Dis. 2010; 33(6): 649-58.
    • (2010) J Inherit Metab Dis , vol.33 , Issue.6 , pp. 649-658
    • Muntau, A.C.1    Gersting, S.W.2
  • 71
    • 33644925833 scopus 로고    scopus 로고
    • Analysis of the effect of tetrahydrobiopterin on PAH gene expression in hepatoma cells
    • Aguado C, Perez B, Ugarte M, Desviat LR. Analysis of the effect of tetrahydrobiopterin on PAH gene expression in hepatoma cells. FEBS Lett. 2006; 580(7): 1697-701.
    • (2006) FEBS Lett , vol.580 , Issue.7 , pp. 1697-1701
    • Aguado, C.1    Perez, B.2    Ugarte, M.3    Desviat, L.R.4
  • 72
    • 8144220031 scopus 로고    scopus 로고
    • Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations
    • Pey AL, Perez B, Desviat LR, Martinez MA, Aguado C, Erlandsen H, et al. Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations. Hum Mutat. 2004; 24(5): 388-99.
    • (2004) Hum Mutat , vol.24 , Issue.5 , pp. 388-399
    • Pey, A.L.1    Perez, B.2    Desviat, L.R.3    Martinez, M.A.4    Aguado, C.5    Erlandsen, H.6
  • 73
    • 48749132287 scopus 로고    scopus 로고
    • Identification of pharmacological chaperones as potential therapeutic agents to treat phenylketonuria
    • 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 Clin Invest. 2008; 118(8): 2858-67.
    • (2008) J Clin Invest , vol.118 , Issue.8 , pp. 2858-2867
    • Pey, A.L.1    Ying, M.2    Cremades, N.3    Velazquez-Campoy, A.4    Scherer, T.5    Thony, B.6
  • 75
    • 0036199911 scopus 로고    scopus 로고
    • High-dose vitamin therapy stimulates variant enzymes with decreased coenzyme binding affinity (increased K-m): relevance to genetic disease and polymorphisms
    • Ames BN, Elson-Schwab I, Silver EA. High-dose vitamin therapy stimulates variant enzymes with decreased coenzyme binding affinity (increased K-m): relevance to genetic disease and polymorphisms. Am J Clin Nutr. 2002; 75(4): 616-58.
    • (2002) Am J Clin Nutr , vol.75 , Issue.4 , pp. 616-658
    • Ames, B.N.1    Elson-Schwab, I.2    Silver, E.A.3
  • 76
    • 69949094309 scopus 로고    scopus 로고
    • Sapropterin: a new therapeutic agent for phenylketonuria
    • Hegge KA, Horning KK, Peitz GJ, Hegge K. Sapropterin: a new therapeutic agent for phenylketonuria. Ann Pharmacother. 2009; 43(9): 1466-73.
    • (2009) Ann Pharmacother , vol.43 , Issue.9 , pp. 1466-1473
    • Hegge, K.A.1    Horning, K.K.2    Peitz, G.J.3    Hegge, K.4
  • 77
    • 34547697475 scopus 로고    scopus 로고
    • Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study
    • 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. Lancet. 2007; 370(9586): 504-10.
    • (2007) Lancet , vol.370 , Issue.9586 , pp. 504-510
    • Levy, H.L.1    Milanowski, A.2    Chakrapani, A.3    Cleary, M.4    Lee, P.5    Trefz, F.K.6
  • 78
    • 35248882919 scopus 로고    scopus 로고
    • The response of patients with phenylketonuria and elevated serum phenylalanine to treatment with oral sapropterin dihydrochloride (6R-tetrahydrobiopterin): a phase II, multicentre, open-label, screening study
    • Burton BK, Grange DK, Milanowski A, Vockley G, Feillet F, Crombez EA, et al. The response of patients with phenylketonuria and elevated serum phenylalanine to treatment with oral sapropterin dihydrochloride (6R-tetrahydrobiopterin): a phase II, multicentre, open-label, screening study. J Inherit Metab Dis. 2007; 30(5): 700-7.
    • (2007) J Inherit Metab Dis , vol.30 , Issue.5 , pp. 700-707
    • Burton, B.K.1    Grange, D.K.2    Milanowski, A.3    Vockley, G.4    Feillet, F.5    Crombez, E.A.6
  • 80
    • 64649100230 scopus 로고    scopus 로고
    • Sapropterin a review of its use in the treatment of primary hyperphenylalaninaemia
    • Sanford M, Keating GM. Sapropterin a review of its use in the treatment of primary hyperphenylalaninaemia. Drugs. 2009; 69(4): 461-76.
    • (2009) Drugs , vol.69 , Issue.4 , pp. 461-476
    • Sanford, M.1    Keating, G.M.2
  • 81
    • 79960843070 scopus 로고    scopus 로고
    • Safety of extended treatment with sapropterin dihydrochloride in patients with phenylketonuria: results of a phase 3b study
    • Burton BK, Nowacka M, Hennermann JB, Lipson M, Grange DK, Chakrapani A, et al. Safety of extended treatment with sapropterin dihydrochloride in patients with phenylketonuria: results of a phase 3b study. Mol Genet Metab. 2011; 103(4): 315-22.
    • (2011) Mol Genet Metab , vol.103 , Issue.4 , pp. 315-322
    • Burton, B.K.1    Nowacka, M.2    Hennermann, J.B.3    Lipson, M.4    Grange, D.K.5    Chakrapani, A.6
  • 82
    • 79960133302 scopus 로고    scopus 로고
    • Adjusting diet with sapropterin in phenylketonuria: what factors should be considered?
    • MacDonald A, Ahring K, Dokoupil K, Gokmen-Ozel H, Lammardo AM, Motzfeldt K, et al. Adjusting diet with sapropterin in phenylketonuria: what factors should be considered? Br J Nutr. 2011; 106(2): 175-82.
    • (2011) Br J Nutr , vol.106 , Issue.2 , pp. 175-182
    • MacDonald, A.1    Ahring, K.2    Dokoupil, K.3    Gokmen-Ozel, H.4    Lammardo, A.M.5    Motzfeldt, K.6
  • 83
    • 77957233995 scopus 로고    scopus 로고
    • Sapropterin therapy increases stability of blood phenylalanine levels in patients with BH4-responsive phenylketonuria (PKU)
    • Burton BK, Bausell H, Katz R, Laduca H, Sullivan C. Sapropterin therapy increases stability of blood phenylalanine levels in patients with BH4-responsive phenylketonuria (PKU). Mol Genet Metab. 2010; 101(2-3): 110-4.
    • (2010) Mol Genet Metab , vol.101 , Issue.2-3 , pp. 110-114
    • Burton, B.K.1    Bausell, H.2    Katz, R.3    Laduca, H.4    Sullivan, C.5
  • 84
    • 79951576257 scopus 로고    scopus 로고
    • Tetrahydrobiopterin therapy for phenylketonuria in infants and young children
    • Burton BK, Adams DJ, Grange DK, Malone JI, Jurecki E, Bausell H, et al. Tetrahydrobiopterin therapy for phenylketonuria in infants and young children. J Pediatr. 2011; 158(3): 410-5.
    • (2011) J Pediatr , vol.158 , Issue.3 , pp. 410-415
    • Burton, B.K.1    Adams, D.J.2    Grange, D.K.3    Malone, J.I.4    Jurecki, E.5    Bausell, H.6
  • 85
    • 63449107693 scopus 로고    scopus 로고
    • Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: a phase III, randomized, double-blind, placebo-controlled study
    • Trefz FK, Burton BK, Longo N, Casanova MM, Gruskin DJ, Dorenbaum A, et al. Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: a phase III, randomized, double-blind, placebo-controlled study. J Pediatr. 2009; 154(5): 700-7.
    • (2009) J Pediatr , vol.154 , Issue.5 , pp. 700-707
    • Trefz, F.K.1    Burton, B.K.2    Longo, N.3    Casanova, M.M.4    Gruskin, D.J.5    Dorenbaum, A.6
  • 86
    • 79960842692 scopus 로고    scopus 로고
    • Blood phenylalanine clearance and BH(4)-responsiveness in classic phenylketonuria
    • Bik-Multanowski M, Pietrzyk JJ. Blood phenylalanine clearance and BH(4)-responsiveness in classic phenylketonuria. Mol Genet Metab. 2011; 103(4): 399-400.
    • (2011) Mol Genet Metab , vol.103 , Issue.4 , pp. 399-400
    • Bik-Multanowski, M.1    Pietrzyk, J.J.2
  • 88
    • 79952113390 scopus 로고    scopus 로고
    • Sapropterin dihydrochloride: a new drug and a new concept in the management of phenylketonuria
    • Trefz FK, Belanger-Quintana A. Sapropterin dihydrochloride: a new drug and a new concept in the management of phenylketonuria. Drugs Today (Barc). 2010; 46(8): 589-600.
    • (2010) Drugs Today (Barc) , vol.46 , Issue.8 , pp. 589-600
    • Trefz, F.K.1    Belanger-Quintana, A.2
  • 89
    • 28844460669 scopus 로고    scopus 로고
    • Inter-individual variation in brain phenylalanine concentration in patients with PKU is not caused by genetic variation in the 4F2hc/LAT1 complex
    • Moller LB, Paulsen M, Koch R, Moats R, Guldberg P, Guttler F. Inter-individual variation in brain phenylalanine concentration in patients with PKU is not caused by genetic variation in the 4F2hc/LAT1 complex. Mol Genet Metab. 2005; 86 Suppl 1: S119-23.
    • (2005) Mol Genet Metab , vol.86 , Issue.SUPPL. 1
    • Moller, L.B.1    Paulsen, M.2    Koch, R.3    Moats, R.4    Guldberg, P.5    Guttler, F.6
  • 90
    • 0034790495 scopus 로고    scopus 로고
    • Individual blood-brain barrier phenylalanine transport determines clinical outcome in phenylketonuria
    • Weglage J, Wiedermann D, Denecke J, Feldmann R, Koch HG, Ullrich K, et al. Individual blood-brain barrier phenylalanine transport determines clinical outcome in phenylketonuria. Ann Neurol. 2001; 50(4): 463-7.
    • (2001) Ann Neurol , vol.50 , Issue.4 , pp. 463-467
    • Weglage, J.1    Wiedermann, D.2    Denecke, J.3    Feldmann, R.4    Koch, H.G.5    Ullrich, K.6
  • 91
    • 0033753597 scopus 로고    scopus 로고
    • Blood-brain phenylalanine relationships in persons with phenylketonuria
    • Koch R, Moats R, Guttler F, Guldberg P, Nelson Jr M. Blood-brain phenylalanine relationships in persons with phenylketonuria. Pediatrics. 2000; 106(5): 1093-6.
    • (2000) Pediatrics , vol.106 , Issue.5 , pp. 1093-1096
    • Koch, R.1    Moats, R.2    Guttler, F.3    Guldberg, P.4    Nelson Jr., M.5
  • 92
    • 31544481841 scopus 로고    scopus 로고
    • Structure of the blood-brain barrier and its role in the transport of amino acids
    • Hawkins RA, O'Kane RL, Simpson IA, Vina JR. Structure of the blood-brain barrier and its role in the transport of amino acids. J Nutr. 2006; 136(1 Suppl): 218S-26S.
    • (2006) J Nutr , vol.136 , Issue.1 SUPPL.
    • Hawkins, R.A.1    O'Kane, R.L.2    Simpson, I.A.3    Vina, J.R.4
  • 93
    • 12444253395 scopus 로고
    • Metabolism of amino acids and proteins
    • Christensen HN. Metabolism of amino acids and proteins. Annu Rev Biochem. 1953; 22: 233-60.
    • (1953) Annu Rev Biochem , vol.22 , pp. 233-260
    • Christensen, H.N.1
  • 94
    • 0038821390 scopus 로고
    • Effects of feeding individual amino acids upon the distribution of other amino acids between cells and extracellular fluid
    • Christensen HN, Streicher JA, Elbinger RL. Effects of feeding individual amino acids upon the distribution of other amino acids between cells and extracellular fluid. J Biol Chem. 1948; 172(2): 515-24.
    • (1948) J Biol Chem , vol.172 , Issue.2 , pp. 515-524
    • Christensen, H.N.1    Streicher, J.A.2    Elbinger, R.L.3
  • 95
    • 0033827010 scopus 로고    scopus 로고
    • The neurochemistry of phenylketonuria
    • Surtees R, Blau N. The neurochemistry of phenylketonuria. Eur J Pediatr. 2000; 159 Suppl 2: S109-13.
    • (2000) Eur J Pediatr , vol.159 , Issue.SUPPL. 2
    • Surtees, R.1    Blau, N.2
  • 96
    • 0017131044 scopus 로고
    • Lowering brain phenylalanine levels by giving other large neutral amino acids: a new experimental therapeutic approach to phenylketonuria
    • Andersen AE, Avins L. Lowering brain phenylalanine levels by giving other large neutral amino acids: a new experimental therapeutic approach to phenylketonuria. Arch Neurol. 1976; 33(10): 684-6.
    • (1976) Arch Neurol , vol.33 , Issue.10 , pp. 684-686
    • Andersen, A.E.1    Avins, L.2
  • 97
    • 0033560647 scopus 로고    scopus 로고
    • Large neutral amino acids block phenylalanine transport into brain tissue in patients with phenylketonuria
    • Pietz J, Kreis R, Rupp A, Mayatepek E, Rating D, Boesch C, et al. Large neutral amino acids block phenylalanine transport into brain tissue in patients with phenylketonuria. J Clin Invest. 1999; 103(8): 1169-78.
    • (1999) J Clin Invest , vol.103 , Issue.8 , pp. 1169-1178
    • Pietz, J.1    Kreis, R.2    Rupp, A.3    Mayatepek, E.4    Rating, D.5    Boesch, C.6
  • 98
    • 0344394559 scopus 로고    scopus 로고
    • Future role of large neutral amino acids in transport of phenylalanine into the brain
    • 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. Pediatrics. 2003; 112(6): 1570-4.
    • (2003) Pediatrics , vol.112 , Issue.6 , pp. 1570-1574
    • Matalon, R.1    Surendran, S.2    Matalon, K.M.3    Tyring, S.4    Quast, M.5    Jinga, W.6
  • 100
    • 33947613027 scopus 로고    scopus 로고
    • Double blind placebo control trial of large neutral amino acids in treatment of PKU: effect on blood phenylalanine
    • Matalon R, Michals-Matalon K, Bhatia G, Burlina AB, Burlina AP, Braga C, et al. Double blind placebo control trial of large neutral amino acids in treatment of PKU: effect on blood phenylalanine. J Inherit Metab Dis. 2007; 30(2): 153-8.
    • (2007) J Inherit Metab Dis , vol.30 , Issue.2 , pp. 153-158
    • Matalon, R.1    Michals-Matalon, K.2    Bhatia, G.3    Burlina, A.B.4    Burlina, A.P.5    Braga, C.6
  • 102
    • 34047251011 scopus 로고    scopus 로고
    • The effects of large neutral amino acid supplements in PKU: an MRS and neuropsychological study
    • Schindeler S, Ghosh-Jerath S, Thompson S, Rocca A, Joy P, Kemp A, et al. The effects of large neutral amino acid supplements in PKU: an MRS and neuropsychological study. Mol Genet Metab. 2007; 91(1): 48-54.
    • (2007) Mol Genet Metab , vol.91 , Issue.1 , pp. 48-54
    • Schindeler, S.1    Ghosh-Jerath, S.2    Thompson, S.3    Rocca, A.4    Joy, P.5    Kemp, A.6
  • 104
    • 1842530304 scopus 로고    scopus 로고
    • Manufacture and use of dairy protein fractions
    • Etzel MR. Manufacture and use of dairy protein fractions. J Nutr. 2004; 134(4): 996s-1002s.
    • (2004) J Nutr , vol.134 , Issue.4
    • Etzel, M.R.1
  • 105
    • 77954229363 scopus 로고    scopus 로고
    • Breakfast with glycomacropeptide compared with amino acids suppresses plasma ghrelin levels in individuals with phenylketonuria
    • Ney DM, MacLeod EL, Clayton MK, van Calcar SC. Breakfast with glycomacropeptide compared with amino acids suppresses plasma ghrelin levels in individuals with phenylketonuria. Mol Genet Metab. 2010; 100(4): 303-8.
    • (2010) Mol Genet Metab , vol.100 , Issue.4 , pp. 303-308
    • Ney, D.M.1    MacLeod, E.L.2    Clayton, M.K.3    van Calcar, S.C.4
  • 106
    • 0042420698 scopus 로고    scopus 로고
    • Administration of protein substitute and quality of control in phenylketonuria: a randomized study
    • MacDonald A, Rylance G, Davies P, Asplin D, Hall SK, Booth IW. Administration of protein substitute and quality of control in phenylketonuria: a randomized study. J Inherit Metab Dis. 2003; 26(4): 319-26.
    • (2003) J Inherit Metab Dis , vol.26 , Issue.4 , pp. 319-326
    • MacDonald, A.1    Rylance, G.2    Davies, P.3    Asplin, D.4    Hall, S.K.5    Booth, I.W.6
  • 107
    • 63649146562 scopus 로고    scopus 로고
    • Improved nutritional management of phenylketonuria by using a diet containing glycomacropeptide compared with amino acids
    • Ney DM, van Calcar SC, MacLeod EL, Gleason ST, Etzel MR, Clayton MK, et al. Improved nutritional management of phenylketonuria by using a diet containing glycomacropeptide compared with amino acids. Am J Clin Nutr. 2009; 89(4): 1068-77.
    • (2009) Am J Clin Nutr , vol.89 , Issue.4 , pp. 1068-1077
    • Ney, D.M.1    van Calcar, S.C.2    MacLeod, E.L.3    Gleason, S.T.4    Etzel, M.R.5    Clayton, M.K.6
  • 108
    • 0027214099 scopus 로고
    • Correction of phenylketonuria after liver-transplantation in a child with cirrhosis
    • Vajro P, Strisciuglio P, Houssin D, Huault G, Laurent J, Alvarez F, et al. Correction of phenylketonuria after liver-transplantation in a child with cirrhosis. New Engl J Med. 1993; 329(5): 363.
    • (1993) New Engl J Med , vol.329 , Issue.5 , pp. 363
    • Vajro, P.1    Strisciuglio, P.2    Houssin, D.3    Huault, G.4    Laurent, J.5    Alvarez, F.6
  • 109
  • 110
    • 0026519919 scopus 로고
    • Reconstitution of enzymatic activity in hepatocytes of phenylalanine hydroxylase-deficient mice
    • Liu TJ, Kay MA, Darlington GJ, Woo SL. Reconstitution of enzymatic activity in hepatocytes of phenylalanine hydroxylase-deficient mice. Somat Cell Mol Genet. 1992; 18(1): 89-96.
    • (1992) Somat Cell Mol Genet , vol.18 , Issue.1 , pp. 89-96
    • Liu, T.J.1    Kay, M.A.2    Darlington, G.J.3    Woo, S.L.4
  • 111
    • 0028464358 scopus 로고
    • Gene therapy for phenylketonuria: phenotypic correction in a genetically deficient mouse model by adenovirus-mediated hepatic gene transfer
    • Fang B, Eisensmith RC, Li XH, Finegold MJ, Shedlovsky A, Dove W, et al. Gene therapy for phenylketonuria: phenotypic correction in a genetically deficient mouse model by adenovirus-mediated hepatic gene transfer. Gene Ther. 1994; 1(4): 247-54.
    • (1994) Gene Ther , vol.1 , Issue.4 , pp. 247-254
    • Fang, B.1    Eisensmith, R.C.2    Li, X.H.3    Finegold, M.J.4    Shedlovsky, A.5    Dove, W.6
  • 112
    • 33645161455 scopus 로고    scopus 로고
    • Complete correction of hyperphenylalaninemia following liver-directed, recombinant AAV2/8 vector-mediated gene therapy in murine phenylketonuria
    • Harding CO, Gillingham MB, Hamman K, Clark H, Goebel-Daghighi E, Bird A, et al. Complete correction of hyperphenylalaninemia following liver-directed, recombinant AAV2/8 vector-mediated gene therapy in murine phenylketonuria. Gene Ther. 2006; 13(5): 457-62.
    • (2006) Gene Ther , vol.13 , Issue.5 , pp. 457-462
    • Harding, C.O.1    Gillingham, M.B.2    Hamman, K.3    Clark, H.4    Goebel-Daghighi, E.5    Bird, A.6
  • 113
    • 33044484608 scopus 로고    scopus 로고
    • Correction of maternal phenylketonuria syndrome in the Pah(enu2) missense mutant mouse by r-AAV mediated gene therapy
    • Laipis PJ, Charron CE, Embury JE, Perera OP, Porvasnik SL, Fields CR, et al. Correction of maternal phenylketonuria syndrome in the Pah(enu2) missense mutant mouse by r-AAV mediated gene therapy. Mol Ther. 2004; 9: S334.
    • (2004) Mol Ther , vol.9
    • Laipis, P.J.1    Charron, C.E.2    Embury, J.E.3    Perera, O.P.4    Porvasnik, S.L.5    Fields, C.R.6
  • 114
    • 3242766095 scopus 로고    scopus 로고
    • Long-term correction of hyperphenylalaninemia by AAV-mediated gene transfer leads to behavioral recovery in phenylketonuria mice
    • Mochizuki S, Mizukami H, Ogura T, Kure S, Ichinohe A, Kojima K, et al. Long-term correction of hyperphenylalaninemia by AAV-mediated gene transfer leads to behavioral recovery in phenylketonuria mice. Gene Ther. 2004; 11(13): 1081-6.
    • (2004) Gene Ther , vol.11 , Issue.13 , pp. 1081-1086
    • Mochizuki, S.1    Mizukami, H.2    Ogura, T.3    Kure, S.4    Ichinohe, A.5    Kojima, K.6
  • 115
    • 80053526511 scopus 로고    scopus 로고
    • Adeno-associated viral vectors for correction of inborn errors of metabolism: progressing towards clinical application
    • Jacobs F, Wang L. Adeno-associated viral vectors for correction of inborn errors of metabolism: progressing towards clinical application. Curr Pharm Des. 2011; 17(24): 2500-15.
    • (2011) Curr Pharm Des , vol.17 , Issue.24 , pp. 2500-2515
    • Jacobs, F.1    Wang, L.2
  • 116
    • 0041806502 scopus 로고    scopus 로고
    • Looking into the safety of AAV vectors
    • Kay MA, Nakai H. Looking into the safety of AAV vectors. Nature. 2003; 424(6946): 251.
    • (2003) Nature , vol.424 , Issue.6946 , pp. 251
    • Kay, M.A.1    Nakai, H.2
  • 118
    • 0027447460 scopus 로고
    • Hepatic gene therapy: adenovirus enhancement of receptor-mediated gene delivery and expression in primary hepatocytes
    • Cristiano RJ, Smith LC, Woo SL. Hepatic gene therapy: adenovirus enhancement of receptor-mediated gene delivery and expression in primary hepatocytes. Proc Natl Acad Sci USA. 1993; 90(6): 2122-6.
    • (1993) Proc Natl Acad Sci USA , vol.90 , Issue.6 , pp. 2122-2126
    • Cristiano, R.J.1    Smith, L.C.2    Woo, S.L.3
  • 119
    • 0037818636 scopus 로고    scopus 로고
    • Sex significantly influences transduction of murine liver by recombinant adeno-associated viral vectors through an androgen-dependent pathway
    • Davidoff AM, Ng CYC, Zhou JF, Spence Y, Nathwani AC. Sex significantly influences transduction of murine liver by recombinant adeno-associated viral vectors through an androgen-dependent pathway. Blood. 2003; 102(2): 480-8.
    • (2003) Blood , vol.102 , Issue.2 , pp. 480-488
    • Davidoff, A.M.1    Ng, C.Y.C.2    Zhou, J.F.3    Spence, Y.4    Nathwani, A.C.5
  • 120
    • 33645098770 scopus 로고    scopus 로고
    • Administration-route and gender-independent long-term therapeutic correction of phenylketonuria (PKU) in a mouse model by recombinant adeno-associated virus 8 pseudotyped vector-mediated gene transfer
    • Ding Z, Georgiev P, Thony B. Administration-route and gender-independent long-term therapeutic correction of phenylketonuria (PKU) in a mouse model by recombinant adeno-associated virus 8 pseudotyped vector-mediated gene transfer. Gene Ther. 2006; 13(7): 587-93.
    • (2006) Gene Ther , vol.13 , Issue.7 , pp. 587-593
    • Ding, Z.1    Georgiev, P.2    Thony, B.3
  • 121
    • 77950957333 scopus 로고    scopus 로고
    • Comparison of adeno-associated virus pseudotype 1, 2, and 8 vectors administered by intramuscular injection in the treatment of murine phenylketonuria
    • Rebuffat A, Thony B, Harding CO, Ding ZB. Comparison of adeno-associated virus pseudotype 1, 2, and 8 vectors administered by intramuscular injection in the treatment of murine phenylketonuria. Hum Gene Ther. 2010; 21(4): 463-77.
    • (2010) Hum Gene Ther , vol.21 , Issue.4 , pp. 463-477
    • Rebuffat, A.1    Thony, B.2    Harding, C.O.3    Ding, Z.B.4
  • 122
    • 79952644629 scopus 로고    scopus 로고
    • Complete restoration of phenylalanine oxidation in phenylketonuria mouse by a self-complementary adeno-associated virus vector
    • Yagi H, Kume A, Ogura T, Mizukami H, Urabe M, Hamada H, et al. Complete restoration of phenylalanine oxidation in phenylketonuria mouse by a self-complementary adeno-associated virus vector. J Gene Med. 2011; 13(2): 114-22.
    • (2011) J Gene Med , vol.13 , Issue.2 , pp. 114-122
    • Yagi, H.1    Kume, A.2    Ogura, T.3    Mizukami, H.4    Urabe, M.5    Hamada, H.6
  • 123
    • 0031834511 scopus 로고    scopus 로고
    • Metabolic engineering as therapy for inborn errors of metabolism-development of mice with phenylalanine hydroxylase expression in muscle
    • Harding CO, Wild K, Chang D, Messing A, Wolff JA. Metabolic engineering as therapy for inborn errors of metabolism-development of mice with phenylalanine hydroxylase expression in muscle. Gene Ther. 1998; 5(5): 677-83.
    • (1998) Gene Ther , vol.5 , Issue.5 , pp. 677-683
    • Harding, C.O.1    Wild, K.2    Chang, D.3    Messing, A.4    Wolff, J.A.5
  • 124
    • 41149168735 scopus 로고    scopus 로고
    • Correction of murine PKU following AAV-mediated intramuscular expression of a complete phenylalanine hydroxylating system
    • Ding Z, Harding CO, Rebuffat A, Elzaouk L, Wolff JA, Thony B. Correction of murine PKU following AAV-mediated intramuscular expression of a complete phenylalanine hydroxylating system. Mol Ther. 2008; 16(4): 673-81.
    • (2008) Mol Ther , vol.16 , Issue.4 , pp. 673-681
    • Ding, Z.1    Harding, C.O.2    Rebuffat, A.3    Elzaouk, L.4    Wolff, J.A.5    Thony, B.6
  • 125
    • 77956263271 scopus 로고    scopus 로고
    • Silencing of reporter gene expression in skin using siRNAs and expression of plasmid DNA delivered by a soluble protrusion array device (PAD)
    • Gonzalez-Gonzalez E, Speaker TJ, Hickerson RP, Spitler R, Flores MA, Leake D, et al. Silencing of reporter gene expression in skin using siRNAs and expression of plasmid DNA delivered by a soluble protrusion array device (PAD). Mol Ther. 2010; 18(9): 1667-74.
    • (2010) Mol Ther , vol.18 , Issue.9 , pp. 1667-1674
    • Gonzalez-Gonzalez, E.1    Speaker, T.J.2    Hickerson, R.P.3    Spitler, R.4    Flores, M.A.5    Leake, D.6
  • 126
    • 39149100652 scopus 로고    scopus 로고
    • Gene delivery to the epidermal cells of human skin explants using microfabricated microneedles and hydrogel formulations
    • Pearton M, Allender C, Brain K, Anstey A, Gateley C, Wilke N, et al. Gene delivery to the epidermal cells of human skin explants using microfabricated microneedles and hydrogel formulations. Pharm Res. 2008; 25(2): 407-16.
    • (2008) Pharm Res , vol.25 , Issue.2 , pp. 407-416
    • Pearton, M.1    Allender, C.2    Brain, K.3    Anstey, A.4    Gateley, C.5    Wilke, N.6
  • 128
    • 34548186685 scopus 로고    scopus 로고
    • A novel approach for enzyme replacement therapy. The use of phenylalanine hydroxylase-based fusion proteins for the treatment of phenylketonuria
    • Eavri R, Lorberboum-Galski H. A novel approach for enzyme replacement therapy. The use of phenylalanine hydroxylase-based fusion proteins for the treatment of phenylketonuria. J Biol Chem. 2007; 282(32): 23402-9.
    • (2007) J Biol Chem , vol.282 , Issue.32 , pp. 23402-23409
    • Eavri, R.1    Lorberboum-Galski, H.2
  • 129
    • 0016731001 scopus 로고
    • Replacement therapy for inherited enzyme deficiency-sustained clearance of accumulated glucocerebroside in gauchers-disease following infusion of purified glucocerebrosidase
    • Pentchev PG, Brady RO, Gal AE, Hibbert SR. Replacement therapy for inherited enzyme deficiency-sustained clearance of accumulated glucocerebroside in gauchers-disease following infusion of purified glucocerebrosidase. J Mol Med. 1975; 1(1): 73-8.
    • (1975) J Mol Med , vol.1 , Issue.1 , pp. 73-78
    • Pentchev, P.G.1    Brady, R.O.2    Gal, A.E.3    Hibbert, S.R.4
  • 130
    • 0025236339 scopus 로고
    • Therapeutic response to intravenous infusions of glucocerebrosidase in a patient with Gaucher disease
    • Barton NW, Furbish FS, Murray GJ, Garfield M, Brady RO. Therapeutic response to intravenous infusions of glucocerebrosidase in a patient with Gaucher disease. Proc Natl Acad Sci USA. 1990; 87(5): 1913-6.
    • (1990) Proc Natl Acad Sci USA , vol.87 , Issue.5 , pp. 1913-1916
    • Barton, N.W.1    Furbish, F.S.2    Murray, G.J.3    Garfield, M.4    Brady, R.O.5
  • 131
    • 0035811624 scopus 로고    scopus 로고
    • Safety and efficacy of recombinant human alpha-galactosidase a replacement therapy in Fabry's disease
    • Eng CM, Guffon N, Wilcox WR, Germain DP, Lee P, Waldek S, et al. Safety and efficacy of recombinant human alpha-galactosidase a replacement therapy in Fabry's disease. New Engl J Med. 2001; 345(1): 9-16.
    • (2001) New Engl J Med , vol.345 , Issue.1 , pp. 9-16
    • Eng, C.M.1    Guffon, N.2    Wilcox, W.R.3    Germain, D.P.4    Lee, P.5    Waldek, S.6
  • 132
    • 41849131481 scopus 로고    scopus 로고
    • Enzyme replacement therapy for mucopolysaccharidoses: opinions of patients and families
    • Coman DJ, Hayes IM, Collins V, Sahhar M, Wraith JE, Delatycki MB. Enzyme replacement therapy for mucopolysaccharidoses: opinions of patients and families. J Pediatr. 2008; 152(5): 723-7.
    • (2008) J Pediatr , vol.152 , Issue.5 , pp. 723-727
    • Coman, D.J.1    Hayes, I.M.2    Collins, V.3    Sahhar, M.4    Wraith, J.E.5    Delatycki, M.B.6
  • 133
    • 1542669902 scopus 로고    scopus 로고
    • Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)
    • Harmatz P, Whitley CB, Waber L, Pais R, Steiner R, Plecko B, et al. Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). J Pediatr. 2004; 144(5): 574-80.
    • (2004) J Pediatr , vol.144 , Issue.5 , pp. 574-580
    • Harmatz, P.1    Whitley, C.B.2    Waber, L.3    Pais, R.4    Steiner, R.5    Plecko, B.6
  • 134
  • 135
    • 32944476769 scopus 로고    scopus 로고
    • Enzyme replacement for lysosomal diseases
    • Brady RO. Enzyme replacement for lysosomal diseases. Annu Rev Med. 2006; 57: 283-96.
    • (2006) Annu Rev Med , vol.57 , pp. 283-296
    • Brady, R.O.1
  • 136
    • 0037362655 scopus 로고    scopus 로고
    • Effect of pegylation on pharmaceuticals
    • Harris JM, Chess RB. Effect of pegylation on pharmaceuticals. Nat Rev Drug Discov. 2003; 2(3): 214-21.
    • (2003) Nat Rev Drug Discov , vol.2 , Issue.3 , pp. 214-221
    • Harris, J.M.1    Chess, R.B.2
  • 137
    • 0346753973 scopus 로고    scopus 로고
    • Structural studies on phenylalanine hydroxylase and implications toward understanding and treating phenylketonuria
    • Erlandsen H, Patch MG, Gamez A, Straub M, Stevens RC. Structural studies on phenylalanine hydroxylase and implications toward understanding and treating phenylketonuria. Pediatrics. 2003; 112(6 Pt 2): 1557-65.
    • (2003) Pediatrics , vol.112 , Issue.6 Pt 2 , pp. 1557-1565
    • Erlandsen, H.1    Patch, M.G.2    Gamez, A.3    Straub, M.4    Stevens, R.C.5
  • 138
    • 10744223043 scopus 로고    scopus 로고
    • Toward PKU enzyme replacement therapy: PEGylation with activity retention for three forms of recombinant phenylalanine hydroxylase
    • Gamez A, Wang L, Straub M, Patch MG, Stevens RC. Toward PKU enzyme replacement therapy: PEGylation with activity retention for three forms of recombinant phenylalanine hydroxylase. Mol Ther. 2004; 9(1): 124-9.
    • (2004) Mol Ther , vol.9 , Issue.1 , pp. 124-129
    • Gamez, A.1    Wang, L.2    Straub, M.3    Patch, M.G.4    Stevens, R.C.5
  • 139
    • 0022533625 scopus 로고
    • Phenylalanine ammonia-lyase immobilized in microcapsules for the depletion of phenylalanine in plasma in phenylketonuric rat model
    • Bourget L, Chang TM. Phenylalanine ammonia-lyase immobilized in microcapsules for the depletion of phenylalanine in plasma in phenylketonuric rat model. Biochim Biophys Acta. 1986; 883(3): 432-8.
    • (1986) Biochim Biophys Acta , vol.883 , Issue.3 , pp. 432-438
    • Bourget, L.1    Chang, T.M.2
  • 140
    • 0018135218 scopus 로고
    • Phenylalanine depletion for management of phenylketonuria-use of enzyme reactors with immobilized enzymes
    • Ambrus CM, Ambrus JL, Horvath C, Pedersen H, Sharma S, Kant C, et al. Phenylalanine depletion for management of phenylketonuria-use of enzyme reactors with immobilized enzymes. Science. 1978; 201(4358): 837-9.
    • (1978) Science , vol.201 , Issue.4358 , pp. 837-839
    • Ambrus, C.M.1    Ambrus, J.L.2    Horvath, C.3    Pedersen, H.4    Sharma, S.5    Kant, C.6
  • 141
    • 0020993593 scopus 로고
    • Phenylketonuria and its variants
    • Kaufman S. Phenylketonuria and its variants. Adv Hum Genet. 1983; 13: 217-97.
    • (1983) Adv Hum Genet , vol.13 , pp. 217-297
    • Kaufman, S.1
  • 142
    • 20444437973 scopus 로고    scopus 로고
    • Biochemical characterization of a prokaryotic phenylalanine ammonia lyase
    • Xiang LK, Moore BS. Biochemical characterization of a prokaryotic phenylalanine ammonia lyase. J Bacteriol. 2005; 187(12): 4286-9.
    • (2005) J Bacteriol , vol.187 , Issue.12 , pp. 4286-4289
    • Xiang, L.K.1    Moore, B.S.2
  • 143
    • 73049125969 scopus 로고
    • Metabolism of aromatic compounds in higher plants. IV. Purification and properties of phenylalanine deaminase of Hordeum vulgare
    • Koukol J, Conn EE. Metabolism of aromatic compounds in higher plants. IV. Purification and properties of phenylalanine deaminase of Hordeum vulgare. J Biol Chem. 1961; 236(10): 2692-8.
    • (1961) J Biol Chem , vol.236 , Issue.10 , pp. 2692-2698
    • Koukol, J.1    Conn, E.E.2
  • 144
    • 0020265773 scopus 로고
    • Regulation of l-phenylalanine ammonia-lyase by l-phenylalanine and nitrogen in Neurospora crassa
    • Sikora LA, Marzluf GA. Regulation of l-phenylalanine ammonia-lyase by l-phenylalanine and nitrogen in Neurospora crassa. J Bacteriol. 1982; 150(3): 1287-91.
    • (1982) J Bacteriol , vol.150 , Issue.3 , pp. 1287-1291
    • Sikora, L.A.1    Marzluf, G.A.2
  • 145
    • 0015217702 scopus 로고
    • Yeast phenylalanine ammonia-lyase. Purification, properties, and the identification of catalytically essential dehydroalanine
    • Hodgins DS. Yeast phenylalanine ammonia-lyase. Purification, properties, and the identification of catalytically essential dehydroalanine. J Biol Chem. 1971; 246(9): 2977-85.
    • (1971) J Biol Chem , vol.246 , Issue.9 , pp. 2977-2985
    • Hodgins, D.S.1
  • 146
    • 0019520497 scopus 로고
    • Induction of l-phenylalanine ammonia-lyase during utilization of phenylalanine as a carbon or nitrogen-source in Rhodotorula glutinis
    • Marusich WC, Jensen RA, Zamir LO. Induction of l-phenylalanine ammonia-lyase during utilization of phenylalanine as a carbon or nitrogen-source in Rhodotorula glutinis. J Bacteriol. 1981; 146(3): 1013-9.
    • (1981) J Bacteriol , vol.146 , Issue.3 , pp. 1013-1019
    • Marusich, W.C.1    Jensen, R.A.2    Zamir, L.O.3
  • 147
    • 0011998872 scopus 로고
    • Strain improvement of Rhodotorula graminis for production of a novel l-phenylalanine ammonia-lyase
    • Orndorff SA, Costantino N, Stewart D, Durham DR. Strain improvement of Rhodotorula graminis for production of a novel L-phenylalanine ammonia lyase. Appl Environ Microb. 1988; 54(4): 996-1002.
    • (1988) Appl Environ Microb , vol.54 , Issue.4 , pp. 996-1002
    • Orndorff, S.A.1    Costantino, N.2    Stewart, D.3    Durham, D.R.4
  • 148
    • 0017303539 scopus 로고
    • Phenylalanine ammonia-lyase-induction and purification from yeast and clearance in mammals
    • Fritz RR, Hodgins DS, Abell CW. Phenylalanine ammonia-lyase-induction and purification from yeast and clearance in mammals. J Biol Chem. 1976; 251(15): 4646-50.
    • (1976) J Biol Chem , vol.251 , Issue.15 , pp. 4646-4650
    • Fritz, R.R.1    Hodgins, D.S.2    Abell, C.W.3
  • 150
    • 0020068410 scopus 로고
    • Phenylalanine ammonia-lyase in the management of phenylketonuria-the relationship between ingested cinnamate and urinary hippurate in humans
    • Hoskins JA, Gray J. Phenylalanine ammonia-lyase in the management of phenylketonuria-the relationship between ingested cinnamate and urinary hippurate in humans. Res Commun Chem Path. 1982; 35(2): 275-82.
    • (1982) Res Commun Chem Path , vol.35 , Issue.2 , pp. 275-282
    • Hoskins, J.A.1    Gray, J.2
  • 151
    • 0017353595 scopus 로고
    • Clearance of phenylalanine ammonia-lyase from normal and tumor-bearing mice
    • Shen RS, Fritz RR, Abell CW. Clearance of phenylalanine ammonia-lyase from normal and tumor-bearing mice. Cancer Res. 1977; 37(4): 1051-6.
    • (1977) Cancer Res , vol.37 , Issue.4 , pp. 1051-1056
    • Shen, R.S.1    Fritz, R.R.2    Abell, C.W.3
  • 152
    • 0022533625 scopus 로고
    • Phenylalanine ammonia-lyase immobilized in microcapsules for the depletion of phenylalanine in plasma in phenylketonuric rat model
    • Bourget L, Chang TMS. Phenylalanine ammonia-lyase immobilized in microcapsules for the depletion of phenylalanine in plasma in phenylketonuric rat model. Biochimica Et Biophysica Acta. 1986; 883(3): 432-8.
    • (1986) Biochimica Et Biophysica Acta , vol.883 , Issue.3 , pp. 432-438
    • Bourget, L.1    Chang, T.M.S.2
  • 153
    • 33748752402 scopus 로고    scopus 로고
    • Is the oral route possible for peptide and protein drug delivery
    • Morishita M, Peppas NA. Is the oral route possible for peptide and protein drug delivery. Drug Discov Today. 2006; 11(19-20): 905-10.
    • (2006) Drug Discov Today , vol.11 , Issue.19-20 , pp. 905-910
    • Morishita, M.1    Peppas, N.A.2
  • 154
    • 22244488749 scopus 로고    scopus 로고
    • Oral delivery of peptide drugs: barriers and developments
    • Hamman JH, Enslin GM, Kotze AF. Oral delivery of peptide drugs: barriers and developments. BioDrugs. 2005; 19(3): 165-77.
    • (2005) BioDrugs , vol.19 , Issue.3 , pp. 165-177
    • Hamman, J.H.1    Enslin, G.M.2    Kotze, A.F.3
  • 155
    • 0022006110 scopus 로고
    • Phenylalanine ammonia-lyase immobilized in semipermeable microcapsules for enzyme replacement in phenylketonuria
    • Bourget L, Chang TM. Phenylalanine ammonia-lyase immobilized in semipermeable microcapsules for enzyme replacement in phenylketonuria. FEBS Lett. 1985; 180(1): 5-8.
    • (1985) FEBS Lett , vol.180 , Issue.1 , pp. 5-8
    • Bourget, L.1    Chang, T.M.2
  • 156
    • 0035857711 scopus 로고    scopus 로고
    • Evaluation of possible reasons for the low phenylalanine ammonia lyase activity in cellulose nitrate membrane microcapsules
    • Habibi-Moini S, D'mello AP. Evaluation of possible reasons for the low phenylalanine ammonia lyase activity in cellulose nitrate membrane microcapsules. Int J Pharm. 2001; 215(1-2): 185-96.
    • (2001) Int J Pharm , vol.215 , Issue.1-2 , pp. 185-196
    • Habibi-Moini, S.1    D'mello, A.P.2
  • 157
    • 42649136887 scopus 로고    scopus 로고
    • Strategies to maximize the encapsulation efficiency of phenylalanine ammonia lyase in microcapsules
    • Shah RM, D'mello AP. Strategies to maximize the encapsulation efficiency of phenylalanine ammonia lyase in microcapsules. Int J Pharm. 2008; 356(1-2): 61-8.
    • (2008) Int J Pharm , vol.356 , Issue.1-2 , pp. 61-68
    • Shah, R.M.1    D'mello, A.P.2
  • 158
    • 0018888343 scopus 로고
    • Experimental hyperphenylalaninemia: effect on central nervous system myelin subfractions
    • Figlewicz DA, Druse MJ. Experimental hyperphenylalaninemia: effect on central nervous system myelin subfractions. Exp Neurol. 1980; 67(2): 315-29.
    • (1980) Exp Neurol , vol.67 , Issue.2 , pp. 315-329
    • Figlewicz, D.A.1    Druse, M.J.2
  • 159
    • 0025156603 scopus 로고
    • The use of N-ethyl-N-nitrosourea to produce mouse models for human phenylketonuria and hyperphenylalaninemia
    • McDonald JD, Bode VC, Dove WF, Shedlovsky A. The use of N-ethyl-N-nitrosourea to produce mouse models for human phenylketonuria and hyperphenylalaninemia. Prog Clin Biol Res. 1990; 340 C: 407-13.
    • (1990) Prog Clin Biol Res , vol.340 C , pp. 407-413
    • McDonald, J.D.1    Bode, V.C.2    Dove, W.F.3    Shedlovsky, A.4
  • 160
    • 0028889553 scopus 로고
    • Enzyme replacement therapy in ENU2 phenylketonuric mice using oral microencapsulated phenylalanine ammonia-lyase: a preliminary report
    • Safos S, Chang TM. Enzyme replacement therapy in ENU2 phenylketonuric mice using oral microencapsulated phenylalanine ammonia-lyase: a preliminary report. Artif Cells Blood Substit Immobil Biotechnol. 1995; 23(6): 681-92.
    • (1995) Artif Cells Blood Substit Immobil Biotechnol , vol.23 , Issue.6 , pp. 681-692
    • Safos, S.1    Chang, T.M.2
  • 161
    • 0023113481 scopus 로고
    • Production of phenylalanine ammonia-lyase (PAL)-isolation and evaluation of yeast strains suitable for commercial production of l-phenylalanine
    • Evans CT, Hanna K, Conrad D, Peterson W, Misawa M. Production of phenylalanine ammonia-lyase (PAL)-isolation and evaluation of yeast strains suitable for commercial production of l-phenylalanine. Appl Microbiol Biot. 1987; 25(5): 406-14.
    • (1987) Appl Microbiol Biot , vol.25 , Issue.5 , pp. 406-414
    • Evans, C.T.1    Hanna, K.2    Conrad, D.3    Peterson, W.4    Misawa, M.5
  • 162
    • 0026583179 scopus 로고
    • Expression in Escherichia coli of the gene encoding phenylalanine ammonia-lyase from Rhodosporidium toruloides
    • Orum H, Rasmussen OF. Expression in Escherichia coli of the gene encoding phenylalanine ammonia-lyase from Rhodosporidium toruloides. Appl Microbiol Biot. 1992; 36(6): 745-8.
    • (1992) Appl Microbiol Biot , vol.36 , Issue.6 , pp. 745-748
    • Orum, H.1    Rasmussen, O.F.2
  • 163
    • 0033514997 scopus 로고    scopus 로고
    • A different approach to treatment of phenylketonuria: phenylalanine degradation with recombinant phenylalanine ammonia lyase
    • Sarkissian CN, Shao Z, Blain F, Peevers R, Su H, Heft R, et al. A different approach to treatment of phenylketonuria: phenylalanine degradation with recombinant phenylalanine ammonia lyase. Proc Natl Acad Sci USA. 1999; 96(5): 2339-44.
    • (1999) Proc Natl Acad Sci USA , vol.96 , Issue.5 , pp. 2339-2344
    • Sarkissian, C.N.1    Shao, Z.2    Blain, F.3    Peevers, R.4    Su, H.5    Heft, R.6
  • 164
    • 0034012174 scopus 로고    scopus 로고
    • A heteroallelic mutant mouse model: a new orthologue for human hyperphenylalaninemia
    • Sarkissian CN, Boulais DM, McDonald JD, Scriver CR. A heteroallelic mutant mouse model: a new orthologue for human hyperphenylalaninemia. Mol Genet Metab. 2000; 69(3): 188-94.
    • (2000) Mol Genet Metab , vol.69 , Issue.3 , pp. 188-194
    • Sarkissian, C.N.1    Boulais, D.M.2    McDonald, J.D.3    Scriver, C.R.4
  • 165
    • 26244450676 scopus 로고    scopus 로고
    • Structure-based chemical modification strategy for enzyme replacement treatment of phenylketonuria
    • Wang L, Gamez A, Sarkissian CN, Straub M, Patch MG, Won Han G, et al. Structure-based chemical modification strategy for enzyme replacement treatment of phenylketonuria. Mol Genet Metab. 2005; 86(1-2): 134-40.
    • (2005) Mol Genet Metab , vol.86 , Issue.1-2 , pp. 134-140
    • Wang, L.1    Gamez, A.2    Sarkissian, C.N.3    Straub, M.4    Patch, M.G.5    Won Han, G.6
  • 166
    • 21144457069 scopus 로고    scopus 로고
    • Development of pegylated forms of recombinant Rhodosporidium toruloides phenylalanine ammonia-lyase for the treatment of classical phenylketonuria
    • Gamez A, Sarkissian CN, Wang L, Kim W, Straub M, Patch MG, et al. Development of pegylated forms of recombinant Rhodosporidium toruloides phenylalanine ammonia-lyase for the treatment of classical phenylketonuria. Mol Ther. 2005; 11(6): 986-9.
    • (2005) Mol Ther , vol.11 , Issue.6 , pp. 986-989
    • Gamez, A.1    Sarkissian, C.N.2    Wang, L.3    Kim, W.4    Straub, M.5    Patch, M.G.6
  • 167
    • 28644437751 scopus 로고    scopus 로고
    • Phenylalanine ammonia-lyase modified with polyethylene glycol: potential therapeutic agent for phenylketonuria
    • Ikeda K, Schiltz E, Fujii T, Takahashi M, Mitsui K, Kodera Y, et al. Phenylalanine ammonia-lyase modified with polyethylene glycol: potential therapeutic agent for phenylketonuria. Amino Acids. 2005; 29(3): 283-7.
    • (2005) Amino Acids , vol.29 , Issue.3 , pp. 283-287
    • Ikeda, K.1    Schiltz, E.2    Fujii, T.3    Takahashi, M.4    Mitsui, K.5    Kodera, Y.6
  • 168
    • 33846635934 scopus 로고    scopus 로고
    • Discovery of two cyanobacterial phenylalanine ammonia lyases: kinetic and structural characterization
    • Moffitt MC, Louie GV, Bowman ME, Pence J, Noel JP, Moore BS. Discovery of two cyanobacterial phenylalanine ammonia lyases: kinetic and structural characterization. Biochemistry. 2007; 46(4): 1004-12.
    • (2007) Biochemistry , vol.46 , Issue.4 , pp. 1004-1012
    • Moffitt, M.C.1    Louie, G.V.2    Bowman, M.E.3    Pence, J.4    Noel, J.P.5    Moore, B.S.6
  • 169
    • 45649083496 scopus 로고    scopus 로고
    • Structural and biochemical characterization of the therapeutic Anabaena variabilis phenylalanine ammonia lyase
    • Wang L, Gamez A, Archer H, Abola EE, Sarkissian CN, Fitzpatrick P, et al. Structural and biochemical characterization of the therapeutic Anabaena variabilis phenylalanine ammonia lyase. J Mol Biol. 2008; 380(4): 623-35.
    • (2008) J Mol Biol , vol.380 , Issue.4 , pp. 623-635
    • Wang, L.1    Gamez, A.2    Archer, H.3    Abola, E.E.4    Sarkissian, C.N.5    Fitzpatrick, P.6
  • 170
    • 58549094507 scopus 로고    scopus 로고
    • Preclinical evaluation of multiple species of PEGylated recombinant phenylalanine ammonia lyase for the treatment of phenylketonuria
    • Sarkissian CN, Gamez A, Wang L, Charbonneau M, Fitzpatrick P, Lemontt JF, et al. Preclinical evaluation of multiple species of PEGylated recombinant phenylalanine ammonia lyase for the treatment of phenylketonuria. Proc Natl Acad Sci USA. 2008; 105(52): 20894-9.
    • (2008) Proc Natl Acad Sci USA , vol.105 , Issue.52 , pp. 20894-20899
    • Sarkissian, C.N.1    Gamez, A.2    Wang, L.3    Charbonneau, M.4    Fitzpatrick, P.5    Lemontt, J.F.6
  • 171
    • 71949122812 scopus 로고    scopus 로고
    • Converting an injectable protein therapeutic into an oral form: phenylalanine ammonia lyase for phenylketonuria
    • Kang TS, Wang L, Sarkissian CN, Gamez A, Scriver CR, Stevens RC. Converting an injectable protein therapeutic into an oral form: phenylalanine ammonia lyase for phenylketonuria. Mol Genet Metab. 2010; 99(1): 4-9.
    • (2010) Mol Genet Metab , vol.99 , Issue.1 , pp. 4-9
    • Kang, T.S.1    Wang, L.2    Sarkissian, C.N.3    Gamez, A.4    Scriver, C.R.5    Stevens, R.C.6
  • 172
    • 82455199281 scopus 로고    scopus 로고
    • Evaluation of orally administered PEGylated phenylalanine ammonia lyase in mice for the treatment of phenylketonuria
    • Sarkissian CN, Kang TS, Gamez A, Scriver CR, Stevens RC. Evaluation of orally administered PEGylated phenylalanine ammonia lyase in mice for the treatment of phenylketonuria. Mol Genet Metab. 2011; 104(3): 249-54.
    • (2011) Mol Genet Metab , vol.104 , Issue.3 , pp. 249-254
    • Sarkissian, C.N.1    Kang, T.S.2    Gamez, A.3    Scriver, C.R.4    Stevens, R.C.5
  • 174
    • 79953315592 scopus 로고    scopus 로고
    • Preparation of Ca-alginate microparticles and its application for phenylketonuria oral therapy
    • Zhang YL, Wang LY, Jia XY, Liu JZ, Ma GH. Preparation of Ca-alginate microparticles and its application for phenylketonuria oral therapy. Ind Eng Chem Res. 2011; 50(7): 4106-12.
    • (2011) Ind Eng Chem Res , vol.50 , Issue.7 , pp. 4106-4112
    • Zhang, Y.L.1    Wang, L.Y.2    Jia, X.Y.3    Liu, J.Z.4    Ma, G.H.5
  • 175
    • 79958187550 scopus 로고    scopus 로고
    • Electrically-assisted delivery of an anionic protein across intact skin: cathodal iontophoresis of biologically active ribonuclease T1
    • Dubey S, Kalia YN. Electrically-assisted delivery of an anionic protein across intact skin: cathodal iontophoresis of biologically active ribonuclease T1. J Control Release. 2011; 152(3): 356-62.
    • (2011) J Control Release , vol.152 , Issue.3 , pp. 356-362
    • Dubey, S.1    Kalia, Y.N.2
  • 176
    • 82455171501 scopus 로고    scopus 로고
    • Enabling skin vaccination using new delivery technologies
    • Kim Y-C, Prausnitz M. Enabling skin vaccination using new delivery technologies. Drug Deliv Transl Res. 2011; 1(1): 7-12.
    • (2011) Drug Deliv Transl Res , vol.1 , Issue.1 , pp. 7-12
    • Kim, Y.-C.1    Prausnitz, M.2
  • 177
    • 78549267442 scopus 로고    scopus 로고
    • Formulation and in vitro evaluation of highly dispersive insulin dry powder formulations for lung administration
    • Depreter F, Amighi K. Formulation and in vitro evaluation of highly dispersive insulin dry powder formulations for lung administration. Eur J Pharm Biopharm. 2010; 76(3): 454-63.
    • (2010) Eur J Pharm Biopharm , vol.76 , Issue.3 , pp. 454-463
    • Depreter, F.1    Amighi, K.2
  • 178
    • 35248871207 scopus 로고    scopus 로고
    • Inhaled insulin using AERx insulin diabetes management system (AERx iDMS)
    • Mudaliar S. Inhaled insulin using AERx insulin diabetes management system (AERx iDMS). Expert Opin Invest Drugs. 2007; 16(10): 1673-81.
    • (2007) Expert Opin Invest Drugs , vol.16 , Issue.10 , pp. 1673-1681
    • Mudaliar, S.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.