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Literature : BH4-responsive PKU/HPA
Books 2006
1. Blau N, PKU and BH4: Advances in Phenylketonuria and Tetrahydrobiopterin. SPS Publications, Heilbronn, 2006
 
Literature 2010
2. Blau, N., A. Belanger-Quintana, M. Demirkol, F. Feillet, M. Giovannini, A. Macdonald, F. K. Trefz and F. V. Spronsen (2010). "Management of phenylketonuria in Europe: Survey results from 19 countries." Mol Genet Metab 99: 109-115.
 
3. Feillet, F., F. J. van Spronsen, A. MacDonald, F. K. Trefz, M. Demirkol, M. Giovannini, A. Blanger-Quintana and N. Blau (2010). "Challenges and pitfalls in the management of phenylketonuria." Pediatrics 126: 333-341.
 
4. Gersting, S. W., F. B. Lagler, A. Eichinger, K. F. Kemter, M. K. Danecka, D. D. Messing, M. Staudigl, K. A. Domdey, C. Zsifkovits, R. Fingerhut, H. Glossmann, A. A. Roscher and A. C. Muntau (2010). "Pahenu1 is a mouse model for tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency and promotes analysis of the pharmacological chaperone mechanism in vivo." Hum Mol Genet. Epub ahead of press
 
5. Kim, H. K., S. H. Ha and J. Han (2010). "Potential therapeutic applications of tetrahydrobiopterin: from inherited hyperphenylalaninemia to mitochondrial diseases." Ann N Y Acad Sci 1201(1): 177-82.
 
6. Somaraju, U. R. and M. Merrin (2010). "Sapropterin dihydrochloride for phenylketonuria." Cochrane Database Syst Rev 6: CD008005.
 
7. Trefz, F. K., D. Scheible and G. Frauendienst-Egger "Long-term follow-up of patients with phenylketonuria receiving tetrahydrobiopterin treatment." J Inherit Metab Dis. Epub ahead of press
 
8. Yan, J., G. Tie, A. Hoffman, Y. Yang, P. T. Nowicki and L. M. Messina (2010). "Oral Tetrahydrobiopterin Improves the Beneficial Effect of Adenoviral-mediated eNOS Gene Transfer After Induction of Hindlimb Ischemia." Mol Ther. Epub ahead of press
 
Literature 2009
9. Blau, N. and B. Thony (2009). "Tetrahydrobiopterin in biomedical research." J Inherit Metab Dis 32(1): 1-2.
 
10. Blau, N., A. Belanger-Quintana, M. Demirkol, F. Feillet, M. Giovannini, A. Macdonald, F. K. Trefz and F. J. van Spronsen (2009). "Optimizing the use of sapropterin (BH(4)) in the management of phenylketonuria." Mol Genet Metab. 96: 158-163
 
11. Burlina, A. and N. Blau (2009). "Effect of BH(4) supplementation on phenylalanine tolerance." J Inherit Metab Dis 32(1): 40-5.
 
12. Daniele, A., I. Scala, G. Cardillo, C. Pennino, C. Ungaro, M. Sibilio, G. Parenti, L. Esposito, A. Zagari, G. Andria and F. Salvatore (2009). "Functional and structural characterization of novel mutations and genotype-phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy." FEBS J 276(7): 2048-59.
 
13. Gramer, G., S. F. Garbade, N. Blau and M. Lindner (2009). "Pharmacokinetics of tetrahydrobiopterin following oral loadings with three single dosages in patients with phenylketonuria." J Inherit Metab Dis 32(1): 52-7.
 
14. Karacic, I., D. Meili, V. Sarnavka, C. Heintz, B. Thony, D. P. Ramadza, K. Fumic, D. Mardesic, I. Baric and N. Blau (2009). "Genotype-predicted tetrahydrobiopterin (BH4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency." Mol Genet Metab 97(3): 165-71.
 
15. Sanford, M. and G. M. Keating (2009). "Spotlight on sapropterin in primary hyperphenylalaninemiadagger." BioDrugs 23(3): 201-2.
 
16. Trefz, F. K., B. K. Burton, N. Longo, M. M. Casanova, D. J. Gruskin, A. Dorenbaum, E. D. Kakkis, E. A. Crombez, D. K. Grange, P. Harmatz, M. H. Lipson, A. Milanowski, L. M. Randolph, J. Vockley, C. B. Whitley, J. A. Wolff, J. Bebchuk, H. Christ-Schmidt and J. B. Hennermann (2009). "Efficacy of Sapropterin Dihydrochloride in Increasing Phenylalanine Tolerance in Children with Phenylketonuria: A Phase III, Randomized, Double-Blind, Placebo-Controlled Study." J Pediatr.Epub ahead of press
 
Literature 2008
17. (2008). "Sapropterin (Kuvan) for phenylketonuria." Med Lett Drugs Ther 50(1287): 43-4.
 
18. Bercovich, D., A. Elimelech, J. Zlotogora, S. Korem, T. Yardeni, N. Gal, N. Goldstein, B. Vilensky, R. Segev, S. Avraham, R. Loewenthal, G. Schwartz and Y. Anikster (2008). "Genotype-phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene." J Hum Genet. Epub ahead of press
 
19. Bercovich, D., A. Elimelech, T. Yardeni, S. Korem, J. Zlotogora, N. Gal, N. Goldstein, B. Vilensky, R. Segev, S. Avraham, R. Loewenthal, G. Schwartz and Y. Anikster (2008). "A Mutation Analysis of the Phenylalanine Hydroxylase (PAH) Gene in the Israeli Population." Ann Hum Genet. Epub ahead of press
 
20. Bik-Multanowski, M., J. J. Pietrzyk, B. Didycz and A. Szymczakiewicz-Multanowska (2008). "Development of a model for assessment of phenylalanine hydroxylase activity in newborns with phenylketonuria receiving tetrahydrobiopterin: A potential for practical implementation." Mol Genet Metab. Epub ahead of press (letter)
 
21. Blau, N. (2008). "Defining tetrahydrobiopterin (BH(4))-responsiveness in PKU." J Inherit Metab Dis 31(1): 2-3.
 
22. Daniele, A., G. Cardillo, C. Pennino, M. T. Carbone, D. Scognamiglio, L. Esposito, A. Correra, G. Castaldo, A. Zagari and F. Salvatore (2008). "Five human phenylalanine hydroxylase proteins identified in mild hyperphenylalaninemia patients are disease-causing variants." Biochim Biophys Acta. Epub ahead of press
 
23. Dobrowolski, S. F., A. L. Pey, R. Koch, H. Levy, C. C. Ellingson, E. W. Naylor and A. Martinez (2008). "Biochemical characterization of mutant phenylalanine hydroxylase enzymes and correlation with clinical presentation in hyperphenylalaninaemic patients." J Inherit Metab Dis. Epub ahead of press
 
24. Doggrell, S. A. (2008). "Is sapropterin treatment suitable for all subjects with phenylketonuria?" Expert Opin Pharmacother 9(1): 145-7.
 
25. Editors (2008). "Sapropterin treatment for phenylketonuria." Arch Dis Child 93(5): 372.
 
26. Feillet, F. (2008). "BH4 in the management of phenylketonuria." Arch Pediatr 15(5): 606-607. [French]
 
27. Feillet, F., C. Chery, F. Namour, A. Kimmoun, E. Favre, E. Lorentz, S. F. Battaglia-Hsu and J. L. Gueant (2008). "Evaluation of neonatal BH4 loading test in neonates screened for hyperphenylalaninemia." Early Hum Dev. Epub ahead of press
 
28. Feillet, F., L. Clarke, C. Meli, M. Lipson, A. A. Morris, P. Harmatz, D. R. Mould, B. Green, A. Dorenbaum, M. Giovannini and E. Foehr (2008). "Pharmacokinetics of Sapropterin in Patients with Phenylketonuria." Clin Pharmacokinet 47(12): 817-825.
 
29. Koch, R. (2008). "Maternal phenylketonuria and tetrahydrobiopterin." Pediatrics 122(6): 1367-8.
 
30. Langenbeck, U. (2008). "Classifying tetrahydrobiopterin responsiveness in the hyperphenylalaninaemias." J Inherit Metab Dis. Epub ahead of press
 
31. Lee, P., E. P. Treacy, E. Crombez, M. Wasserstein, L. Waber, J. Wolff, U. Wendel, A. Dorenbaum, J. Bebchuk, H. Christ-Schmidt, M. Seashore, M. Giovannini, B. K. Burton and A. A. Morris (2008). "Safety and efficacy of 22 weeks of treatment with sapropterin dihydrochloride in patients with phenylketonuria." Am J Med Genet A. Epub ahead of press
 
32. Michals-Matalon, K. (2008). "Sapropterin dihydrochloride, 6-R-L-erythro-5,6,7,8-tetrahydrobiopterin, in the treatment of phenylketonuria." Expert Opin Investig Drugs 17(2): 245-51.
 
33. Nascimento, C., J. Leandro, I. Tavares de Almeida and P. Leandro (2008). "Modulation of the Activity of Newly Synthesized Human Phenylalanine Hydroxylase Mutant Proteins by Low-Molecular-Weight Compounds." Protein J. Epub ahead of press
 
34. Sarkissian, C. N., A. Gamez and C. R. Scriver (2008). "What we know that could influence future treatment of phenylketonuria." J Inherit Metab Dis. Epub ahead of press
 
35. Trefz, F. K., D. Scheible, H. Gotz and G. Frauendienst-Egger (2008). "Significance of genotype in tetrahydrobiopterin-responsive phenylketonuria." J Inherit Metab Dis. Epub ahead of press
 
36. Williams, R. A., C. D. Mamotte and J. R. Burnett (2008). "Phenylketonuria: an inborn error of phenylalanine metabolism." Clin Biochem Rev 29(1): 31-41.
 
37. Zurfluh, M. R., J. Zschocke, M. Lindner, F. Feillet, C. Chery, A. Burlina, R. C. Stevens, B. Thony and N. Blau (2008). "Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency." Hum Mutat 29(1): 167-175.
 
Literature 2007
38. Aguado, C., B. Perez, M. J. Garcia, A. Belanger-Quintana, M. Martinez-Pardo, M. Ugarte and L. R. Desviat (2007). "BH4 responsiveness associated to a PKU mutation with decreased binding affinity for the cofactor." Clin Chim Acta. Epub ahead of press
 
39. Boveda, M. D., M. L. Couce, D. E. Castineiras, J. A. Cocho, B. Perez, M. Ugarte and J. M. Fraga (2007). "The tetrahydrobiopterin loading test in 36 patients with hyperphenylalaninaemia: Evaluation of response and subsequent treatment." J Inherit Metab Dis. 30(5): 512
 
40. Burnett, J. R. (2007). "Sapropterin dihydrochloride (Kuvan/Phenoptin), an orally active synthetic form of BH4 for the treatment of phenylketonuria." IDrugs 10(11): 805-813.
 
41. Burton, B. K., D. K. Grange, A. Milanowski, G. Vockley, F. Feillet, E. A. Crombez, V. Abadie, C. O. Harding, S. Cederbaum, D. Dobbelaere, A. Smith and A. Dorenbaum (2007). "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. Epub ahead of press
 
42. Fiege, B. and N. Blau (2007). "Assessment of Tetrahydrobiopterin (BH(4)) Responsiveness in Phenylketonuria." J Pediatr 150(6): 627-630.
 
43. Gramer, G., P. Burgard, S. F. Garbade and M. Lindner (2007). "Effects and clinical significance of tetrahydrobiopterin supplementation in phenylalanine hydroxylase-deficient hyperphenylalaninaemia." J Inherit Metab Dis. Epub ahead of press
 
44. Levy H, Burton B, Cederbaum S, Scriver C. (2007). Recommendations for evaluation of responsiveness to tetrahydrobiopterin (BH(4)) in phenylketonuria and its use in treatment. Mol Genet Metab 92(4):287-291.
 
45. Levy, L., A. Milanowski, A. Chakrapani, M. Cleary, P. Lee, F. K. Trefz, C. B. Whitley, F. Feillet, A. S. Feigenbaum, J. D. Bebchuk, H. Christ-Schmidt and A. Dorenbaum (2007). "Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study." Lancet 370: 504-510.
 
46. Martinez, A. and A. L. Pey (2007). "Tetrahydrobiopterin for patients with phenylketonuria." Lancet 370: 462-463.
 
47. Michals-Matalon, K., G. Bhatia, F. Guttler, S. K. Tyring and R. Matalon (2007). "Response of Phenylketonuria to Tetrahydrobiopterin." J Nutr 137(6): 1564S-1567S.
 
48. Okano Y, Takatori K, Kudo S, Sakaguchi T, Asada M, Kajiwara M, Yamano T. (2007). Effects of tetrahydrobiopterin and phenylalanine on in vivo human phenylalanine hydroxylase by phenylalanine breath test. Mol Genet Metab 92(4):308-14.
 
49. Pey, A. L., F. Stricher, L. Serrano and A. Martinez (2007). "Predicted effects of missense mutations on native-state stability account for phenotypic outcome in phenylketonuria, a paradigm of misfolding diseases." Am J Hum Genet 81(5): 1006-24.
 
50. Wang, L., S. Surendran, K. Michals-Matalon, G. Bhatia, S. Tanskley, R. Koch, J. Grady, S. K. Tyring, R. C. Stevens, F. Guttler and R. Matalon (2007). "Mutations in the regulatory domain of phenylalanine hydroxylase and response to tetrahydrobiopterin." Genet Test 11(2): 174-8.
 
51. Welch, T. R. (2007). "Pharmacologic approch to PKU?" J Pediatr 150(6): A3.
 
52. Yang, L., Z. Zhang, J. Ye, Z. Zhou, M. Shen, L. Han, W. Qiu, W. Yu and X. Gu (2007). "Clinical study of tetrahydrobiopterin responsive phenylalanine hydroxylase deficiency in southern and northern Chinese patients." Zhonghua Yi Xue Yi Chuan Xue Za Zhi 24(3): 310-3. (Article in Chinese)
 
53. Ye, J., W. J. Qiu, L. S. Han, Y. J. Zhang, J. D. Zhou, Y. F. Zhang, Y. L. Wu and X. F. Gu (2007). "Diagnosis, treatment and long-term following up of 223 patients with hyperphenylalaninemia detected by neonatal screening programs." Zhonghua Yu Fang Yi Xue Za Zhi 41(3): 189-92. [Article in Chinese]
 
Literature 2006
54. Aguado, C., B. Perez, M. Ugarte and L. R. Desviat (2006). "Analysis of the effect of tetrahydrobiopterin on PAH gene expression in hepatoma cells." FEBS Lett 580(7): 1697-701.
 
55. Baldellou Vazquez, A., M. I. Salazar Garcia-Blanco, M. P. Ruiz-Echarri Zalaya, C. Campos Calleja, L. Ruiz Desviat and M. Ugarte Perez (2006). "Tetrahydrobiopterin therapy for hyperphenylalaninemia due to phenylalanine hydroxylase deficiency. When and how?" An Pediatr (Barc) 64(2): 146-52. [Article in Spanish]
 
56. Blau, N. and P. Burgard (2005). Disorders of phenylalanine and tetrahydrobiopterin. Physician's Guide to the Treatment and Follow-up of Metabolic Diseases. N. Blau, G. Hoffmann, J. Leonard and J. Clarke. Heidelberg, Springer.
 
57. Boneh, A., D. E. Francis, M. Humphrey, H. J. Upton and H. L. Peters (2006). "Three-year audit of the hyperphenylalaninaemia/phenylketonuria spectrum in Victoria." J Paediatr Child Health 42(9): 496-8.
 
58. Daniele, A., G. Cardillo, C. Pennino, M. T. Carbone, D. Scognamiglio, A. Correra, A. Pignero, G. Castaldo and F. Salvatore (2006). "Molecular Epidemiology of Phenylalanine Hydroxylase Deficiency in Southern Italy: a 96% Detection Rate with Ten Novel Mutations." Ann Hum Genet. Epub ahead of press
 
59. Leuzzi, V., C. Carducci, C. Carducci, F. Chiarotti, C. Artiola, T. Giovanniello and I. Antonozzi (2006). "The spectrum of phenylalanine variations under tetrahydrobiopterin load in subjects affected by phenylalanine hydroxylase deficiency." J Inherit Metab Dis 29(1): 38-46.
 
60. Zurflüh, M. R., L. Fiori, B. Fiege, N. B. Kuru, M. Demirkol, K. H. Gärtner, B. Thöny, M. Giovannini and N. Blau (2006). "Pharmacokinetics of orally administered tetrahydrobiopterin in patients with phenylalanine hydroxylase deficiency." J Inherit Metab Dis 29(6)725-731
 
Literature 2005
61. Belanger-Quintana, A., M. J. Garcia, M. Castro, L. R. Desviat, B. Perez, B. Mejia, M. Ugarte and M. Martinez-Pardo (2005). "Spanish BH(4)-responsive phenylalanine hydroxylase-deficient patients: Evolution of seven patients on long-term treatment with tetrahydrobiopterin." Mol Genet Metab.86:S61-S66
 
62. Blau, N., R. Koch, R. Matalon and R. C. Stevens (2005). "Five years of synergistic scientific effort on phenylketonuria therapeutic development and molecular understanding." Mol Genet Metab. 86:S1 .
 
63. Fiege, B., L. Bonafe, D. Ballhausen, M. Baumgartner, B. Thony, D. Meili, L. Fiori, M. Giovannini and N. Blau (2005). "Extended tetrahydrobiopterin loading test in the diagnosis of cofactor-responsive phenylketonuria: A pilot study." Mol Genet Metab. 86:S91-S95
 
64. Fiori, L., B. Fiege, E. Riva and M. Giovannini (2005). "Incidence of BH4-responsiveness in phenylalanine-hydroxylase-deficient Italian patients." Mol Genet Metab. 86: S67-S74
 
65. Hennermann, J. B., C. Bührer, N. Blau, B. Vetter and E. Mönch (2005). "Long-term treatment with tetrahydrobiopterin increases phenylalanine tolerance in classic and mild phenylketonuria." Molec Genet Metab: 86:S86-S90
 
66. Koch, R., K. Moseley and F. Guttler (2005). "Tetrahydrobiopterin and maternal PKU." Mol Genet Metab 86S: 139-141.
 
67. Lambruschini, N., B. Perez-Duenas, M. A. Vilaseca, A. Mas, R. Artuch, R. Gassio, L. Gomez, A. Gutierrez and J. Campistol (2005). "Clinical and nutritional evaluation of phenylketonuric patients on tetrahydrobiopterin monotherapy." Mol Genet Metab.86:S54-S60
 
68. Matalon, R., K. Michals-Matalon, R. Koch, J. Grady, S. Tyring and R. C. Stevens (2005). "Response of patients with phenylketonuria in the US to tetrahydrobiopterin." Mol Genet Metab.86:S17-S21
 
69. Mitchell, J. J., B. Wilcken, I. Alexander, C. Ellaway, H. O'Grady, V. Wiley, J. Earl and J. Christodoulou (2005). "Tetrahydrobiopterin responsive phenylketonuria: The New South Wales experience." Mol Genet Metab. 86: S81-S85
 
70. Opladen, T., M. Zurflüh, I. Kern, L. Kierat, B. Thöny and N. Blau (2005). "Severe mucitis after sublingual administration of tetrahydrobiopterin in a patient with tetrahydrobiopterin-responsive phenylketonuria." Eur J Pediatr 164: 395 - 396.
 
71. Perez, B., L. R. Desviat, P. Gomez-Puertas, A. Martinez, R. C. Stevens and M. Ugarte (2005). "Kinetic and stability analysis of PKU mutations identified in BH4-responsive patients." Mol Genet Metab. 86:S11-S16
 
72. Pey, A. L. and A. Martinez (2005). "The activity of wild-type and mutant phenylalanine hydroxylase and its regulation by phenylalanine and tetrahydrobiopterin at physiological and pathological concentrations: An isothermal titration calorimetry study." Mol Genet Metab.86:S43-S53
 
73. Scavelli, R., Z. Ding, N. Blau, J. Haavik, A. Martinez and B. Thony (2005). "Stimulation of hepatic phenylalanine hydroxylase activity but not Pah-mRNA expression upon oral loading of tetrahydrobiopterin in normal mice." Mol Genet Metab. 86:S153-S155
 
74. Schuett, V. (2005). "International group meets to consider emerging role of tetrahydrobiopterin in PKU treatment." PKU News 17(1): 1-3.
 
75. Shintaku, H., H. Fujioka, Y. Sawada, M. Asada and T. Yamano (2005). "Plasma biopterin levels and tetrahydrobiopterin responsiveness." Mol Genet Metab. 86: S104-S106
 
76. Song, F., Y. J. Qu, T. Zhang, Y. W. Jin, H. Wang and X. Y. Zheng (2005). "Phenylketonuria mutations in Northern China." Mol Genet Metab. 86:S107-S118
 
77. Trefz, F. K., D. Scheible, G. Frauendienst-Egger, H. Korall and N. Blau (2005). "Long-term treatment of patients with mild and classical phenylketonuria by tetrahydrobiopterin." Mol Genet Metab. 86:S75-S80
 
78. Zhang, Z. X., J. Ye, W. J. Qiu, L. S. Han and X. F. Gu (2005). "Screening and diagnosis of tetrahydrobiopterin responsive phenylalanine hydroxylase deficiency with tetrahydrobiopterin loading test." Zhonghua Er Ke Za Zhi 43(5): 335-9 [Article in Chinese].
 
Literature 2004
79. Blau, N. and C. R. Scriver (2004). "New approach to treat PKU: how far are we?" Mol Genet Metab: 81: 1-2.
 
80. Blau, N. and H. Erlandsen (2004). "The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency." Mol Genet Metab: 82:101-111.
 
81. Blau, N., B. Fiege and F. K. Trefz (2004). Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency: diagnosis, genetics, treatment, and international database BIOPKU. In Pterins, Folates, and Neurotransmitters in Molecular Medicine. N. Blau and B. Thöny (Eds.). Heilbronn, SPS Publishing: 132-142.
 
82. Cerone, R., M. C. Schiaffino, A. R. Fantasia, M. Perfumo, L. Birk Moller and N. Blau (2004). "Long-term follow-up of a patient with mild tetrahydrobiopterin-responsive phenylketonuria." Mol Genet Metab 81: 137-139.
 
83. Desviat, L. R., B. Pérez, A. Bèlanger-Quintana, M. Castro, C. Aguado, A. Sánchez, M. J. García, M. Martínez-Pardo and M. Ugarte (2004). "Tetrahydrobiopterin responsiveness: results of the BH4 loading test in 31 Spanish PKU patients and correlation with their genotype." Mol Genet Metab 82: 157-162.
 
84. Erlandsen, H., A. L. Pey, A. Gamez, B. Perez, L. R. Desviat, C. Aguado, R. Koch, S. Surendran, S. Tyring, R. Matalon, C. R. Scriver, M. Ugarte, A. Martinez and R. C. Stevens (2004). "Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations." Proc Natl Acad Sci U S A.
 
85. Fiege, B., D. Ballhausen, L. Kierat, W. Leimbacher, D. Goriouniv, B. Schircks, B. Thöny and N. Blau (2004). "Plasma tetrahydrobiopterin and its pharmacokinetics following oral administration." Mol Genet Metab: 81: 45-51
 
86. Kure, S., K. Dato, K. Fujii, Y. Aoki, Y. Suzuki, S. Kato and Y. matsubara (2004). "Wild-type phenylalanine hydroxylase activity is enhanced by tetrahydrobiopterin supplemantation in vivo: an implication for therapeutic basis of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency." Mol Genet Metab 83: 150-156.
 
87. Lee, D. H., S. K. Koo, K. S. Lee, Y. J. Yeon, H. J. Oh, S. W. Kim, S. J. Lee, S. S. Kim, J. E. Lee, I. Jo and S. C. Jung (2004). "The molecular basis of phenylketonuria in Koreans." J Hum Genet 49(11): 617-21.
 
88. Matalon, R., R. Koch, K. Michals-Matalon, K. Moseley, S. Surendran, S. Tyring, H. Erlandsen, A. Gamez, R. C. Stevens, A. Romstad, L. B. Moller and F. Guttler (2004). "Biopterin responsive phenylalanine hydroxylase deficiency." Genet Med 6(1): 27-32.
 
89. Okano, Y., Y. Hase, M. Kawajiri, Y. Nishi, K. Inui, N. Sakai, Y. Tanaka, K. Takatori, M. Kajiwara and T. Yamano (2004). "In vivo studies of phenylalanine hydroxylase by phenylalanine breath test: diagnosis of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency." Pediatr Res 56(5): 714-9.
 
90. Perez-Duenas, B., M. A. Vilaseca, A. Mas, N. Lambruschini, R. Artuch, L. Gomez, J. Pineda, A. Gutierrez, M. Mila and J. Campistol (2004). "Tetrahydrobiopterin responsiveness in patients with phenylketonuria." Clin Biochem 37(12): 1083-90.
 
91. Pey, A. L., B. Perez, L. R. Desviat, M. A. Martinez, C. Aguado, H. Erlandsen, A. Gamez, R. C. Stevens, M. Thorolfsson, M. Ugarte and A. Martinez (2004). "Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations." Hum Mutat 24(5): 388-399.
 
92. Shintaku, H., S. Kure, T. Ohura, Y. Okano, M. Ohwada, N. Sugiyama, N. Sakura, I. Yoshida, M. Yoshino, Y. Matsubara, K. Suzuki, K. Aoki and T. Kitagawa (2004). "Long-Term Treatment and Diagnosis of Tetrahydrobiopterin-Responsive Hyperphenylalaninemia with a Mutant Phenylalanine Hydroxylase Gene." Pediatr Res., online ahead pub
 
93. Steinfeld, R., A. Kohlschütter, K. Ullrich and L. Lukacs (2004). "Efficiency of long-term tetrahydrobiopterin monotherapy in phenylketonuria." J Inher Metab Dis 27: 449-453.
 
94. Thöny, B., Z. Ding and A. Martinez (2004). "Tetrahydrobiopterin protects phenylalanine hydroxylase activity in vivo: Implications for tetrahydrobiopterin-responsive hyperphenylalaninemia." FEBS Letters 577: 507-511.
 
Literature 2003
95. Blau, N. (2003). "Tetrahydrobiopterin control in phenylketonuria." Genet Med 5(1): 57-8.
 
96. Blau, N., C. Bernegger and F. K. Trefz (2003). "Tetrahydrobiopterin-responsive hyperphenylalaninemia due to homozygous mutations in the phenylalanine hydroxylase gene." Eur J Pediatr 162: 196.
 
97. Koch, R., K. D. Moseley, R. Moats, S. Yano, R. Matalon and F. Guttler (2003). "Danger of high-protein dietary supplements to persons with hyperphenylalaninaemia." J Inherit Metab Dis 26(4): 339-42.
 
98. Lindner, M., R. Steinfeld, P. Burgard, A. Schulze, E. Mayatepek and J. Zschocke (2003). "Tetrahydrobiopterin sensitivity in German patients with mild phenylalanine hydroxylase deficiency." Hum Mutat 21(4): 400.
 
99. Steinfeld, R., A. Kohlschutter, K. Ullrich and Z. Lukacs (2003). "A hypothesis on the biochemical mechanism of BH(4)-responsiveness in phenylalanine hydroxylase deficiency." Amino Acids 25(1): 63-8.
 
100. Trefz, F. K. and N. Blau (2003). "Potential role of tetrahydrobiopterin in the treatment of maternal phenylketonuria." Pediatrics 112: 1566-1569.
 
Literature 2002
101. Bardelli, T., M. A. Donati, S. Gasperini, F. Ciani, F. Balli, N. Blau, A. Morrone and E. Zammarchi (2002). Two novel genetic lesions and a common BH4-responsive mutation of the PAH gene in Italian patients with hyperphenylalaninemia. Mol Genet Metab 77: 260-266.
 
102. Bernegger, C. and N. Blau High frequency of tetrahydrobiopterin-responsiveness among hyperphenylalaninemias: A study of 1919 patients observed from 1988 to 2002. Mol Genet Metab 77: 304-313, 2002
 
103. Blau N, Bernegger C. Importance of tetrahydrobiopterin (BH4) loading test in the diagnosis of BH4-responsive HPA/PKU. J Inherit Metab Dis 2002;25(Suppl. I):20.
 
104. Blau N, Trefz FK. Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency: Possible regulation of gene expression in a patient with the homozygous L48S mutation. Mol Genet Metabol 2002;75:186-187.
 
105. Blau, N., C. Bernegger and F. K. Trefz (2002). Tetrahydrobiopterinresponsive hyperphenylalaninemia due to homozygous mutations in the phenylalanine hydroxylase gene. Eur J Pediatr: DOI 10.107/s004131-1034-5 online.
 
106. Hennermann JB, Vetter B, Kulozik AE, Mönch E. Partial and total tetrahydrobiopterin-responsiveness in classical and mild phenylketonuria (PKU). J Inherit Metab Dis 2002;25(Suppl. I):21.
 
107. Koch R, Güttler F, Blau N. Mental illness in mild PKU responds to biopterin. Mol Genet Metab 2002;75:284-286.
 
108. Lässker 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.
 
109. Matalon R, Koch R, Michals-Matalon K, Mosley K, Stevens R. Tetrahydrobiopterin-responsive phenylalanine hydroxylase mutations. J Inherit Metab Dis 2002;25(Suppl. I):23.
 
110. Steinfeld R, Kohlschütter A, Zschocke J, Lindner M, Ullrich K, Lukacs Z. Tetrahydrobiopterin monotherapy for phenylketonuria patients with common mild mutations. Eur J Pediatr 2002;DOI 10.1007/s00431-002-0966-0.
 
111. Weglage, J., M. Grenzebach, A. v.Teeffelen-Heithoff, T. Marquardt, R. Feldmann, J. Denecke, D. Gödde and H. G. Koch (2002). Tetrahydrobiopterin responsiveness in a large series of phenylketonuria patients. J Inherit Metab Dis 25: 321-322.
 
Literature 2001
112. Erlandsen H, Stevens RC. A structural hypothesis for BH4 responsiveness in patiens with mild forms of hyperphenylalaninemia and phenylketonuria. J Inherit Metab Dis 2001;24:213-230.
 
113. Lindner M, Haas D, Zschocke J, Burgard P. Tetrahydrobiopterin responsiveness in phenylketonuria differs between patients with the same genotype. Mol Genet Metab 2001;73(1):104-6.
 
114. Nuoffer JM, Thöny B, Romstad A, Blau N. A patient with phenylketonuria successfully treated with tetrahydrobiopterin. J Inerit Metab Dis 2001;24(Suppl. 1):29.
 
115. Spaapen LJM, Bakker JA, Velter C, Loots W, Rubio ME, Forget PP, Duran M, Dorland L, de Konig TJ, Poll-The BT, Ploos van Amstel HK, Bekhof J, Blau N. Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates. J Iner Metabol Dis 2001;24:325-358.
 
116. Trefz FK, Aulea-Scholz C, Blau N. Successful treatment of phenylketonuria by tetrahydrobiopterin. Eur J Pediatr 2001:315.
 
Literature 2000
117. Leandro P, Rivera I, Lechner MC, de Almeida IT, Konecki D (2000) The V388M mutation results in a kinetic variant form of phenylalanine hydroxylase. Mol Genet Metab 69: 204-12
 
Literature 1999
118. Kure S, Hou DC, Ohura T, Iwamoto H, S. S, Sugiyama N, Sakamoto O, Fujii K, Matsubara Y, Narisawa K. Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Journal of Pediatrics 1999;135(3):375-378.
 
Reviews 2006
119. Blau, N. (2006). "Differentialdiagnose der Hyperphenylalaninämien: Screening auf angeborene Stoffwechselkrankheiten." Kinder- und Jugendmedizin 4: 225-232.[Article in German]
 
 


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