메뉴 건너뛰기




Volumn 17, Issue 2, 2008, Pages 245-251

Sapropterin dihydrochloride, 6-R-L-erythro-5,6,7,8- tetrahydrobiopterin, in the treatment of phenylketonuria

Author keywords

Phenylalanine; Phenylalanine hydroxylase; Phenylketonuria; Tetrahydrobiopterin (BH4)

Indexed keywords

AROMATIC AMINO ACID; CHAPERONE; DIHYDROPTERIDINE REDUCTASE; GUANOSINE TRIPHOSPHATE; GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I; MUTANT PROTEIN; PHENYLALANINE; PHENYLALANINE 4 MONOOXYGENASE; PLACEBO; PTERIN DERIVATIVE; QUINONE DERIVATIVE; SAPROPTERIN; TETRAHYDROBIOPTERIN; TRYPTOPHAN; TYROSINE; 5,6,7,8-TETRAHYDROBIOPTERIN; BIOPTERIN; DRUG DERIVATIVE; UNCLASSIFIED DRUG;

EID: 39049099124     PISSN: 13543784     EISSN: None     Source Type: Journal    
DOI: 10.1517/13543784.17.2.245     Document Type: Review
Times cited : (21)

References (61)
  • 1
    • 84941432771 scopus 로고
    • Uber ausscheidung von pheylbrenztraubensaure in den harn als stoffwechselanomalie in verbindung mit imbesillitat
    • Folling A. Uber ausscheidung von pheylbrenztraubensaure in den harn als stoffwechselanomalie in verbindung mit imbesillitat. Z Physiol Chem 1934;22:169-76
    • (1934) Z Physiol Chem , vol.22 , pp. 169-176
    • Folling, A.1
  • 2
    • 50449135748 scopus 로고
    • Influence of phenylalanine intake on phenylketonuria
    • Bickel H, Gerrard AJ, Hickman EM. Influence of phenylalanine intake on phenylketonuria. Lancet 1953;2:812-3
    • (1953) Lancet , vol.2 , pp. 812-813
    • Bickel, H.1    Gerrard, A.J.2    Hickman, E.M.3
  • 3
    • 0003042138 scopus 로고
    • The influence of phenylalanine intake on the chemistry and behavior of a phenylketonuria child
    • Bickel H, Gerrard AJ, Hickman EM. The influence of phenylalanine intake on the chemistry and behavior of a phenylketonuria child. Acta Paediatr Scand 1954;43:64-77
    • (1954) Acta Paediatr Scand , vol.43 , pp. 64-77
    • Bickel, H.1    Gerrard, A.J.2    Hickman, E.M.3
  • 4
    • 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 1955;1:57-64
    • (1955) Br Med , vol.1 , pp. 57-64
    • Woolf, L.I.1    Griffiths, R.2    Moncrieff, A.3
  • 5
    • 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;34:565-80
    • (1955) J Clin Invest , vol.34 , pp. 565-580
    • Armstrong, M.D.1    Tyler, F.H.2
  • 6
    • 75449123150 scopus 로고
    • A simple phenylalanine method for determining phenylketonuria in large populations of newborn infants
    • Guthrie R, Susi A. A simple phenylalanine method for determining phenylketonuria in large populations of newborn infants. Pediatrics 1963;14:338-43
    • (1963) Pediatrics , vol.14 , pp. 338-343
    • Guthrie, R.1    Susi, A.2
  • 7
    • 42549131648 scopus 로고    scopus 로고
    • National Newborn Screening and Genetics Resource Center website. Available at
    • National Newborn Screening and Genetics Resource Center website. Available at: http://genes-r-us.uthscsa.edu/
  • 8
    • 0021072277 scopus 로고
    • Cloned human phenylalanine hydroxylase gene permits prenatal diagnosis and carrier detection of classical phenylketonuria
    • Woo SLC, Lidsky AS, Guttler F, et al. Cloned human phenylalanine hydroxylase gene permits prenatal diagnosis and carrier detection of classical phenylketonuria. Nature 1983;306:151-5
    • (1983) Nature , vol.306 , pp. 151-155
    • Woo, S.L.C.1    Lidsky, A.S.2    Guttler, F.3
  • 9
    • 0021954909 scopus 로고
    • Gene transfer and gene expression of human phenylalanine hydroxylase
    • Ledley FD, Grenett HE, Dilella AG, et al. Gene transfer and gene expression of human phenylalanine hydroxylase. Science 1985;228:77-9
    • (1985) Science , vol.228 , pp. 77-79
    • Ledley, F.D.1    Grenett, H.E.2    Dilella, A.G.3
  • 10
    • 0027177691 scopus 로고
    • Molecular analysis of phenylketonuria in Denmark: 99% of the mutations detected by denaturing gradients gel electrophoresis
    • Guldberg P, Henriksen KF, Guttler F. Molecular analysis of phenylketonuria in Denmark: 99% of the mutations detected by denaturing gradients gel electrophoresis. Genomics 1993;17:141-6
    • (1993) Genomics , vol.17 , pp. 141-146
    • Guldberg, P.1    Henriksen, K.F.2    Guttler, F.3
  • 12
    • 0000134296 scopus 로고    scopus 로고
    • Hyperphenylalaninemias: Phenylalanine hydroxylase deficiency
    • Scriver CR, Beaudet AL, Sly WS, Valle D, editors. McGraw-Hill, Inc, New York;
    • Scriver CR, Kaufman S. Hyperphenylalaninemias: phenylalanine hydroxylase deficiency, In: The Metabolic and Molecular Bases of Inherited Disease. Scriver CR, Beaudet AL, Sly WS, Valle D, editors. McGraw-Hill, Inc., New York; 2001:1667-724
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 1667-1724
    • Scriver, C.R.1    Kaufman, S.2
  • 13
    • 0015193355 scopus 로고
    • The phenylalanine hydroxylating system from mammalian liver
    • Kaufman S. The phenylalanine hydroxylating system from mammalian liver. Adv Enzymol 1971;35:245-319
    • (1971) Adv Enzymol , vol.35 , pp. 245-319
    • Kaufman, S.1
  • 14
    • 0019288144 scopus 로고    scopus 로고
    • Guttler F. Hyperphenylalaninemia. Diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in children Acta Paediatr Scand 1980;280:1-80
    • Guttler F. Hyperphenylalaninemia. Diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in children Acta Paediatr Scand 1980;280:1-80
  • 15
    • 42549154074 scopus 로고    scopus 로고
    • Michals Matalon K. Dietary recommendations in the USA. In: PKU and BH4 Advances in Phenylketonuria and Tetrahydrobiopterin. Blau N, editor. SPS Publications, Heilbronn; 2006:220-31
    • Michals Matalon K. Dietary recommendations in the USA. In: PKU and BH4 Advances in Phenylketonuria and Tetrahydrobiopterin. Blau N, editor. SPS Publications, Heilbronn; 2006:220-31
  • 16
    • 42549167783 scopus 로고    scopus 로고
    • Matalon R, Michals Matalon K, Treatment of phenylketonuria variants: US recommendations. In: PKU and BH4 Advances in Phenylketonuria and Tetrahydrobiopterin. Blau N, editor. SPS Publications, Heilbronn; 2006:201-19
    • Matalon R, Michals Matalon K, Treatment of phenylketonuria variants: US recommendations. In: PKU and BH4 Advances in Phenylketonuria and Tetrahydrobiopterin. Blau N, editor. SPS Publications, Heilbronn; 2006:201-19
  • 17
    • 0022609047 scopus 로고
    • Effect of age at loss of dietary control on intellectual performance and behavior of children with phenylketonuria
    • Holtzman N, Kronmal RA, Van Doornick W, et al. Effect of age at loss of dietary control on intellectual performance and behavior of children with phenylketonuria. N Engl J Med 1986;34:593-8
    • (1986) N Engl J Med , vol.34 , pp. 593-598
    • Holtzman, N.1    Kronmal, R.A.2    Van Doornick, W.3
  • 18
    • 0023805701 scopus 로고
    • Blood phenylalanine and intelligence of ten-year-old children with phenylketonuria in the national collaborative study
    • Michals K, Azeit C, Acosta PB, et al. Blood phenylalanine and intelligence of ten-year-old children with phenylketonuria in the national collaborative study. J Am Diet Assoc 1988;88:1226-9
    • (1988) J Am Diet Assoc , vol.88 , pp. 1226-1229
    • Michals, K.1    Azeit, C.2    Acosta, P.B.3
  • 19
    • 34548501968 scopus 로고    scopus 로고
    • Effects and clinical significance of tetrahydrobiopterin supplementation in phenylalanine hydroxylase-deficient hyperphenylalaninemia
    • Gramer G, Burgard P, Garbade SF, Lindner M. Effects and clinical significance of tetrahydrobiopterin supplementation in phenylalanine hydroxylase-deficient hyperphenylalaninemia. J Inherit Metab Dis 2007;30:556-62
    • (2007) J Inherit Metab Dis , vol.30 , pp. 556-562
    • Gramer, G.1    Burgard, P.2    Garbade, S.F.3    Lindner, M.4
  • 20
    • 0016042698 scopus 로고
    • Atypical phenylketonuria accompanied by a severe progressive neurological illness unresponsive to dietary treatment
    • Smith J. Atypical phenylketonuria accompanied by a severe progressive neurological illness unresponsive to dietary treatment. Arch Dis Child 1974;49:245
    • (1974) Arch Dis Child , vol.49 , pp. 245
    • Smith, J.1
  • 21
    • 0016751402 scopus 로고
    • Phenylketonuria due to a deficiency of dihydropteridine reductase
    • Kaufman S, Holtzman NA, Milstein S, et al. Phenylketonuria due to a deficiency of dihydropteridine reductase. N Engl J Med 1975;293:785-9
    • (1975) N Engl J Med , vol.293 , pp. 785-789
    • Kaufman, S.1    Holtzman, N.A.2    Milstein, S.3
  • 22
    • 0017304706 scopus 로고    scopus 로고
    • Rey F, Blandin-Savoja F, Rey J. I Atypical phenylketinuria with normal dihydropteridine reductase acdvity. N Engl J Med 1976;295:1138
    • Rey F, Blandin-Savoja F, Rey J. I Atypical phenylketinuria with normal dihydropteridine reductase acdvity. N Engl J Med 1976;295:1138
  • 23
    • 0017492041 scopus 로고
    • Atypical phenylketonuria with normal phenylalanine hydroxylase and dihydropteridine reductase activity in vitro
    • Bartholome K, Byrd PJ, Kaufman S, Milstein S. Atypical phenylketonuria with normal phenylalanine hydroxylase and dihydropteridine reductase activity in vitro. Pediatrics 1977;59:757-61
    • (1977) Pediatrics , vol.59 , pp. 757-761
    • Bartholome, K.1    Byrd, P.J.2    Kaufman, S.3    Milstein, S.4
  • 24
    • 0034790129 scopus 로고    scopus 로고
    • National Institutes of Health Consensus Development Conference Statement. Phenylketonuria: Screening and management, NIH. October 16-18, 2000. Pediatrics 2001;108:972-82
    • National Institutes of Health Consensus Development Conference Statement. Phenylketonuria: Screening and management, NIH. October 16-18, 2000. Pediatrics 2001;108:972-82
  • 25
    • 0027533685 scopus 로고
    • Recommendations on the dietary management of phenylketonuria. Report of Medical Research Council Working Party on Phenylketonuria
    • Recommendations on the dietary management of phenylketonuria. Report of Medical Research Council Working Party on Phenylketonuria. Arch Dis Child 1993;68:426-7
    • (1993) Arch Dis Child , vol.68 , pp. 426-427
  • 26
    • 0033504353 scopus 로고    scopus 로고
    • Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency: A novel clinical entity
    • Kure S, Hou DC, Ohura T, et al. Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency: a novel clinical entity. J Pediatr 1999;135:375-8
    • (1999) J Pediatr , vol.135 , pp. 375-378
    • Kure, S.1    Hou, D.C.2    Ohura, T.3
  • 27
    • 0036351315 scopus 로고    scopus 로고
    • Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency: Possible regulation of gene expression in a patient with the homozygous L48S mutation
    • Blau N, Trefz F. Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency: possible regulation of gene expression in a patient with the homozygous L48S mutation. Mol Genet Metab 2002;75:186-7
    • (2002) Mol Genet Metab , vol.75 , pp. 186-187
    • Blau, N.1    Trefz, F.2
  • 28
    • 0036213209 scopus 로고    scopus 로고
    • Tetrahydrobiopterin responsiveness in phenylketonuria. Two new cases and a review of molecular genetic findings
    • Lassker U, Zschocke J, Blau N, Santer R. Tetrahydrobiopterin responsiveness in phenylketonuria. Two new cases and a review of molecular genetic findings. J Inherit Metab Dis 2002;25:65-70
    • (2002) J Inherit Metab Dis , vol.25 , pp. 65-70
    • Lassker, U.1    Zschocke, J.2    Blau, N.3    Santer, R.4
  • 29
    • 0037180758 scopus 로고    scopus 로고
    • Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria
    • Muntau AC, Roschinger W, Habich M, et al. Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria. N Engl J Med 2002;347:2122-32
    • (2002) N Engl J Med , vol.347 , pp. 2122-2132
    • Muntau, A.C.1    Roschinger, W.2    Habich, M.3
  • 30
    • 10744221135 scopus 로고    scopus 로고
    • Long-term treatment and diagnosis of tetrahydrobiopterin-responsive hyperphenylalaninemia with a mutant phenylalanine hydroxylase gene
    • Shintaku H, Kure S, Ohura T, et al. Long-term treatment and diagnosis of tetrahydrobiopterin-responsive hyperphenylalaninemia with a mutant phenylalanine hydroxylase gene. Pediatr Res 2004;55:1-6
    • (2004) Pediatr Res , vol.55 , pp. 1-6
    • Shintaku, H.1    Kure, S.2    Ohura, T.3
  • 31
    • 4744358646 scopus 로고    scopus 로고
    • Tetrahydrobiopterin responsiveness: Results of the BH4 loading test in 31 Spanish PKU patients and correlation with their genotype
    • Desviat LR, Perez B, Belanger-Quintana A, et al. Tetrahydrobiopterin responsiveness: results of the BH4 loading test in 31 Spanish PKU patients and correlation with their genotype. Mol Genet Metab 2004;82:157-62
    • (2004) Mol Genet Metab , vol.82 , pp. 157-162
    • Desviat, L.R.1    Perez, B.2    Belanger-Quintana, A.3
  • 32
    • 33645686672 scopus 로고    scopus 로고
    • The spectrum of phenylalanine variations under tetrahydrobiopterin load in subjects affected by phenylalanine hydroxylase deficiency
    • Leuzzi V, Carducci C, Carducci C, et al. The spectrum of phenylalanine variations under tetrahydrobiopterin load in subjects affected by phenylalanine hydroxylase deficiency. J Inherit Metab Dis 2006;29:38-46
    • (2006) J Inherit Metab Dis , vol.29 , pp. 38-46
    • Leuzzi, V.1    Carducci, C.2    Carducci, C.3
  • 33
    • 28844484633 scopus 로고    scopus 로고
    • Long-term treatment with tetrahydrobiopterin increases phenylalanine tolerance in children with severe phenotype of phenylketonuria
    • Hennermann JB, Vetter B, Kulozik AE, Monch E. Long-term treatment with tetrahydrobiopterin increases phenylalanine tolerance in children with severe phenotype of phenylketonuria. Mol Genet Metab 2005;86:S86-90
    • (2005) Mol Genet Metab , vol.86
    • Hennermann, J.B.1    Vetter, B.2    Kulozik, A.E.3    Monch, E.4
  • 34
    • 0034923705 scopus 로고    scopus 로고
    • Tetrahydrobiopterin-responsive hyperphenylalaninemia (HPA) in Dutch neonates
    • Spaapen LJ, Bakker JA, Velter C, et al. Tetrahydrobiopterin-responsive hyperphenylalaninemia (HPA) in Dutch neonates. J Inherit Metab Dis 2001;24:352-8
    • (2001) J Inherit Metab Dis , vol.24 , pp. 352-358
    • Spaapen, L.J.1    Bakker, J.A.2    Velter, C.3
  • 35
    • 10744223885 scopus 로고    scopus 로고
    • Biopterin responsive phenylalanine hydroxylase deficiency
    • Matalon R, Koch R, Michals-Matalon K, et al. Biopterin responsive phenylalanine hydroxylase deficiency. Genet Med 2004;6:27-32
    • (2004) Genet Med , vol.6 , pp. 27-32
    • Matalon, R.1    Koch, R.2    Michals-Matalon, K.3
  • 36
    • 0035718935 scopus 로고    scopus 로고
    • Tetrahydrobiopterin responsiveness in phenylketonuria differs between patients with the same genotype
    • Lindner M, Hass D, Zschocke J, Burgard P. Tetrahydrobiopterin responsiveness in phenylketonuria differs between patients with the same genotype. Mol Genet Metab 2003;73:104-6
    • (2003) Mol Genet Metab , vol.73 , pp. 104-106
    • Lindner, M.1    Hass, D.2    Zschocke, J.3    Burgard, P.4
  • 37
    • 0036691053 scopus 로고    scopus 로고
    • Tetrahydrobiopterin responsiveness in a large series of phenylketonuria patients
    • Weglage J, Grenzebach M, Von Teeffelen-Heithoff A, et al. Tetrahydrobiopterin responsiveness in a large series of phenylketonuria patients. J Inherit Metab Dis 2002;25:321-2
    • (2002) J Inherit Metab Dis , vol.25 , pp. 321-322
    • Weglage, J.1    Grenzebach, M.2    Von Teeffelen-Heithoff, A.3
  • 38
    • 28844485030 scopus 로고    scopus 로고
    • Response of patients with phenylketonuria in the US to tetrahydrobiopterin
    • Matalon R, Michals-Matalon K, Koch R, et al. Response of patients with phenylketonuria in the US to tetrahydrobiopterin. Mol Genet Metab 2005;96:S17-21
    • (2005) Mol Genet Metab , vol.96
    • Matalon, R.1    Michals-Matalon, K.2    Koch, R.3
  • 39
    • 85046529949 scopus 로고    scopus 로고
    • Successful treatment of phenylketonuria with tetrahydrobiopterin [letter-to editor]
    • Trefz F, Aulehla-Scholz C, Blau N. Successful treatment of phenylketonuria with tetrahydrobiopterin [letter-to editor]. Eur J Pediatr 2001;60:315
    • (2001) Eur J Pediatr , vol.60 , pp. 315
    • Trefz, F.1    Aulehla-Scholz, C.2    Blau, N.3
  • 40
    • 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, 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
  • 41
    • 8844256618 scopus 로고    scopus 로고
    • Tetrahydrobiopterin protects phenylalanine hydroxylase activity in vivo: Implications for tetrahydrobiopterin-responsive hyperphenylalaninemia
    • Thony B, Ding Z, Martinez A. Tetrahydrobiopterin protects phenylalanine hydroxylase activity in vivo: implications for tetrahydrobiopterin-responsive hyperphenylalaninemia. FEBS Lett 2004;577:507-11
    • (2004) FEBS Lett , vol.577 , pp. 507-511
    • Thony, B.1    Ding, Z.2    Martinez, A.3
  • 42
    • 0344931892 scopus 로고    scopus 로고
    • Relationship among genotype, biochemical phenotype and cognitive performance in females with phenylalanine hydroxylase deficiency: Report from the Maternal Phenlketonuria Collaborative Study
    • Guttler F, Azen C, Guldberg P, et al. Relationship among genotype, biochemical phenotype and cognitive performance in females with phenylalanine hydroxylase deficiency: Report from the Maternal Phenlketonuria Collaborative Study. Pediatrics 1999;104:258-62
    • (1999) Pediatrics , vol.104 , pp. 258-262
    • Guttler, F.1    Azen, C.2    Guldberg, P.3
  • 43
    • 0034744074 scopus 로고    scopus 로고
    • A structural hypothesis for BH4 responsiveness in patients with mild forms of hyperphenylalaninemia and phenylketonuria
    • Erlandsen H, Stevens RC. A structural hypothesis for BH4 responsiveness in patients with mild forms of hyperphenylalaninemia and phenylketonuria. J Inherit Metab Dis 2002;24:213-30
    • (2002) J Inherit Metab Dis , vol.24 , pp. 213-230
    • Erlandsen, H.1    Stevens, R.C.2
  • 44
    • 34249782289 scopus 로고    scopus 로고
    • Response of phenylketonuria to tetrahydrobiopterin
    • Michals-Matalon K, Bhatia G, Guttler F, et al. Response of phenylketonuria to tetrahydrobiopterin. J Nutr 2007;137:S1564-7
    • (2007) J Nutr , vol.137
    • Michals-Matalon, K.1    Bhatia, G.2    Guttler, F.3
  • 45
    • 34447284479 scopus 로고    scopus 로고
    • Mutations in the regulatory domain of phenylalanine hydroxylase and response to tetrahydrobiopterin
    • Wang L, Surendran S, Michals-Matalon K, et al. Mutations in the regulatory domain of phenylalanine hydroxylase and response to tetrahydrobiopterin. Genet Test 2007;11:174-8
    • (2007) Genet Test , vol.11 , pp. 174-178
    • Wang, L.1    Surendran, S.2    Michals-Matalon, K.3
  • 46
    • 42549104400 scopus 로고    scopus 로고
    • PAHdb: a locus-specific mutation knowledgebase focusing on their associations and effects phenylalanine hydroxylase locus knowledgebase. Available at: http://www.pahdb.mcgill.ca
    • PAHdb: a locus-specific mutation knowledgebase focusing on their associations and effects phenylalanine hydroxylase locus knowledgebase. Available at: http://www.pahdb.mcgill.ca
  • 47
    • 0031612929 scopus 로고    scopus 로고
    • Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group
    • Antonarakis SE. Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group. Hum Mutat 1998;11:1-3
    • (1998) Hum Mutat , vol.11 , pp. 1-3
    • Antonarakis, S.E.1
  • 48
    • 42549128998 scopus 로고    scopus 로고
    • Available at
    • Information on BH4. Available at: http://www.bh4.org/
    • Information on BH4
  • 49
    • 42549097208 scopus 로고    scopus 로고
    • Molecular genetics of tetrahhydrobiopterin-responsive phenylalanine hydroxylase deficiency
    • Zurfluh MR, Zschocke J, Lindner M, et al. Molecular genetics of tetrahhydrobiopterin-responsive phenylalanine hydroxylase deficiency. Hum Mutat 2007;0:1-9
    • (2007) Hum Mutat , vol.0 , pp. 1-9
    • Zurfluh, M.R.1    Zschocke, J.2    Lindner, M.3
  • 50
    • 0024146421 scopus 로고
    • Inborn errors of pterin metabolism
    • Blau N. Inborn errors of pterin metabolism. Ann Rev Nutr 1988;8:185-209
    • (1988) Ann Rev Nutr , vol.8 , pp. 185-209
    • Blau, N.1
  • 51
    • 0000138089 scopus 로고    scopus 로고
    • Disorders of tetrahydrobiopterin and related biogenic amines
    • Scriver CR, Beaudet AL, Sly WS, Valle D, editors. McGraw-Hill, Inc, New York
    • Blau, N, Thony B, Corton RGH, Hyland K. Disorders of tetrahydrobiopterin and related biogenic amines. In: The Metabolic and Molecular Basis of Inherited Disease. Scriver CR, Beaudet AL, Sly WS, Valle D, editors. McGraw-Hill, Inc., New York, 2001:1725-76
    • (2001) The Metabolic and Molecular Basis of Inherited Disease , pp. 1725-1776
    • Blau, N.1    Thony, B.2    Corton, R.G.H.3    Hyland, K.4
  • 52
    • 0024368342 scopus 로고
    • Hyperphenylalaninemia due to inherited deficiencies of tetrahydrobiopterin
    • Barness LB, DeVivo DC, Morrow G, Oski F, Rudolph AM, editors. Year Book Medical Publishers, Chicago;
    • Matalon R, Michals K, Blau N, Rouse B. Hyperphenylalaninemia due to inherited deficiencies of tetrahydrobiopterin. In: Advances in Pediatrics. Barness LB, DeVivo DC, Morrow G, Oski F, Rudolph AM, editors. Year Book Medical Publishers, Chicago; 1989:67-89
    • (1989) Advances in Pediatrics , pp. 67-89
    • Matalon, R.1    Michals, K.2    Blau, N.3    Rouse, B.4
  • 53
    • 42549136719 scopus 로고    scopus 로고
    • Fiegge B, Blau N. Pharmacokinetic of tetrahydrobiopterin in humans and rats. In: PKU and BH4 Advances in Phenylketonuria and Tetrahydrobiopterin. Blau N, editor. SPS Publications, Heilbronn; 2006:638-51
    • Fiegge B, Blau N. Pharmacokinetic of tetrahydrobiopterin in humans and rats. In: PKU and BH4 Advances in Phenylketonuria and Tetrahydrobiopterin. Blau N, editor. SPS Publications, Heilbronn; 2006:638-51
  • 54
    • 33751064142 scopus 로고    scopus 로고
    • Pharmacokinetics of orally administered tetrahydrobioipterin in patients with phenylalanine hydroxylase deficiency
    • Zurfluh MR, Fiori L, Fiege B, et al. Pharmacokinetics of orally administered tetrahydrobioipterin in patients with phenylalanine hydroxylase deficiency. J Inherit Metab Dis 2006;29:725-31
    • (2006) J Inherit Metab Dis , vol.29 , pp. 725-731
    • Zurfluh, M.R.1    Fiori, L.2    Fiege, B.3
  • 55
    • 0347086140 scopus 로고    scopus 로고
    • Plasma tetrahydrobiopterin and its pharmacokinetic following oral administration
    • Fiege B, Ballhausesn D, Kierat L, et al. Plasma tetrahydrobiopterin and its pharmacokinetic following oral administration. Mol Genet Metab 2004;81:45-51
    • (2004) Mol Genet Metab , vol.81 , pp. 45-51
    • Fiege, B.1    Ballhausesn, D.2    Kierat, L.3
  • 56
    • 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;82:101-11
    • (2004) Mol Genet Metab , vol.82 , pp. 101-111
    • Blau, N.1    Erlandsen, H.2
  • 57
    • 34248583457 scopus 로고    scopus 로고
    • Assessment of tetrahydrobiopterin (BH4) responsiveness in phenylketonuria
    • Fiege B, Blau N. Assessment of tetrahydrobiopterin (BH4) responsiveness in phenylketonuria. J Pediatr 2007;150:627-30
    • (2007) J Pediatr , vol.150 , pp. 627-630
    • Fiege, B.1    Blau, N.2
  • 58
    • 28844448239 scopus 로고    scopus 로고
    • Spanish BH4-responsive phenylalanine hydroxylase-deficient patients: Evolution of seven patients on long-term treatment with tetrahydrobiopterin
    • Belanger-Quintana A, Garcia MJ, Castro M, et al. Spanish BH4-responsive phenylalanine hydroxylase-deficient patients: evolution of seven patients on long-term treatment with tetrahydrobiopterin. Mol Genet Metab 2005;86:S61-6
    • (2005) Mol Genet Metab , vol.86
    • Belanger-Quintana, A.1    Garcia, M.J.2    Castro, M.3
  • 59
    • 28844468010 scopus 로고    scopus 로고
    • Extended tetrahydrobiopterin loading test in the diagnosis of cofactor-responsive phenylketonuria: A pilot study
    • Fiege B, Bonafe L, Ballhausen D, et al. Extended tetrahydrobiopterin loading test in the diagnosis of cofactor-responsive phenylketonuria: a pilot study. Mol Genet Metab 2005;86:S91-5
    • (2005) Mol Genet Metab , vol.86
    • Fiege, B.1    Bonafe, L.2    Ballhausen, D.3
  • 60
    • 35448951191 scopus 로고    scopus 로고
    • The tetrahydrobiopterin loading test in 36 patients with hyperphenylalaninemia: Evaluation of response and subsequent treatment
    • Boveda MD, Couce ML, Castineiras DE, et al. The tetrahydrobiopterin loading test in 36 patients with hyperphenylalaninemia: evaluation of response and subsequent treatment. J Inherit Metab Dis 2007;30:812
    • (2007) J Inherit Metab Dis , vol.30 , pp. 812
    • Boveda, M.D.1    Couce, M.L.2    Castineiras, D.E.3
  • 61
    • 34547697475 scopus 로고    scopus 로고
    • Efficacy of sapropterin dihydrochloriide (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: A Phase III randomized placebo-controlled study
    • Levy HL, Milanowski A, Chakrapani A, et al. Efficacy of sapropterin dihydrochloriide (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a Phase III randomized placebo-controlled study. Lancet 2007;370:504-10
    • (2007) Lancet , vol.370 , pp. 504-510
    • Levy, H.L.1    Milanowski, A.2    Chakrapani, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.