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| Literature 2010 |
| 1. |
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. |
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| 2. |
Manjarrez-Gutierrez, G., M. Gonzalez-Ramirez, A. B. Oca and J. Hernandez-Rodriguez (2010). "Dihydropteridine Reductase Activity in the Brainstem of Intrauterine Growth-Restricted Rats." Int J Dev Neurosci. Epub ahead of press |
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| 3. |
Frye, R. E., L. C. Huffman and G. R. Elliott (2010). "Tetrahydrobiopterin as a Novel Therapeutic Intervention for Autism." Neurotherapeutics 7(3): 241-249. |
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| 4. |
Watschinger, K., M. A. Keller, G. Golderer, M. Hermann, M. Maglione, B. Sarg, H. H. Lindner, A. Hermetter, G. Werner-Felmayer, R. Konrat, N. Hulo and E. R. Werner (2010). "Identification of the gene encoding alkylglycerol monooxygenase defines a third class of tetrahydrobiopterin-dependent enzymes." Proc Natl Acad Sci U S A. Epub ahead of press |
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| 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. |
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| 6. |
Cardaci, S., G. Filomeni, G. Rotilio and M. R. Ciriolo (2010). "p38MAPK/p53 signaling axis mediates neuronal apoptosis in response to tetrahydrobiopterin-induced oxidative stress and glucose uptake inhibition: implication for neurodegeneration." Biochem J. Epub ahead of press |
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| 7. |
Berbee, M., Q. Fu, K. S. Kumar and M. Hauer-Jensen (2010). "Novel Strategies to Ameliorate Radiation Injury: A Possible Role for Tetrahydrobiopterin." Curr Drug Targets. Epub aheadof press |
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| 8. |
Somaraju, U. R. and M. Merrin (2010). "Sapropterin dihydrochloride for phenylketonuria." Cochrane Database Syst Rev 6: CD008005. |
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| 9. |
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 |
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| 10. |
Cao, L., L. Zheng, W. G. Tang, Q. Xiao, T. Zhang, H. D. Tang, S. B. He, X. J. Wang, J. Q. Ding and S. D. Chen (2010). "Four novel mutations in the GCH1 gene of Chinese patients with dopa-responsive dystonia." Mov Disord 25(6): 747-52. |
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| 11. |
Dhondt, J. L. (2010). "Lessons from 30 years of selective screening for tetrahydrobiopterin deficiency." J Inherit Metab Dis. Epub ahead of press |
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| 12. |
Mori, H., Y. Nishinaka, M. Nonogawa, P. Sommani, K. Makino, K. Yamashita and T. Arai (2010). "Substituent effects of pterin derivatives on singlet oxygen scavenging activity." Biol Pharm Bull 33(5): 905-8. |
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| 13. |
Zheng, J. S. and L. L. Tang (2010). "Effects of tetrahydrobiopterin on cerebral infarction after transient focal ischemia in rats." Neurol Res. Epub ahead of press |
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| 14. |
Schmidt, T. S., E. McNeill, G. Douglas, M. J. Crabtree, A. B. Hale, J. Khoo, C. A. O'Neill, A. Cheng, K. M. Channon and N. J. Alp "Tetrahydrobiopterin supplementation reduces atherosclerosis and vascular inflammation in Apolipoprotein E-knockout mice." Clin Sci (Lond).Epub ahead of press |
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| 15. |
McHugh, P. C., P. R. Joyce, X. Deng and M. A. Kennedy "A polymorphism of the GTP-cyclohydrolase I feedback regulator gene alters transcriptional activity and may affect response to SSRI antidepressants." Pharmacogenomics J. Epub ahead of press |
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| 16. |
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 |
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| 17. |
Wali, G. M., B. Thony and N. Blau "Sepiapterin reductase deficiency: Two Indian siblings with unusual clinical features." Mov Disord.Epub ahead of press |
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| 18. |
Francis, B. N., M. R. Wilkins and L. Zhao "Tetrahydrobiopterin (BH4) and the regulation of hypoxic pulmonary vasoconstriction." Eur Respir J. Epub ahead of press |
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| 19. |
Gangula, P. R., S. Mukhopadhyay, K. Ravella, S. Cai, K. M. Channon, R. E. Garfield and P. J. Pasricha "Tetrahydrobiopterin (BH4), a cofactor for nNOS, restores gastric emptying and nNOS expression in female diabetic rats." Am J Physiol Gastrointest Liver Physiol.Epub ahead of press |
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| 20. |
Thida, M., J. Earl, Y. Zhao, H. Wang, C. S. Tse, J. J. Vickers, M. Sutton, S. L. Ong, T. A. Mori, K. D. Croft, J. A. Whitworth and Y. Zhang "Effects of Sepiapterin Supplementation and NOS Inhibition on Glucocorticoid-Induced Hypertension." Am J Hypertens.Epub ahead of press |
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| 21. |
Novakova, L., I. Kaufmannova and R. Janska 2010 "Evaluation of hybrid hydrophilic interaction chromatography stationary phases for ultra-HPLC in analysis of polar pteridines." J Sep Sci. 33:1-8 |
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| 22. |
Nurkiewicz, T. R., G. Wu, P. Li and M. A. Boegehold "Decreased Arteriolar Tetrahydrobiopterin is Linked to Superoxide Generation from Nitric Oxide Synthase in Mice Fed High Salt." Microcirculation 17(2): 147-57. |
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| 23. |
Sucher, R., P. Gehwolf, R. Oberhuber, M. Hermann, C. Margreiter, E. R. Werner, P. Obrist, S. Schneeberger, R. Ollinger, R. Margreiter and G. Brandacher "Tetrahydrobiopterin protects the kidney from ischemia-reperfusion injury." Kidney Int.Epub ahead of press |
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| 24. |
Lang, J. A., L. A. Holowatz and W. L. Kenney "Localized tyrosine or tetrahydrobiopterin supplementation corrects the age-related decline in cutaneous vasoconstriction." J Physiol. Epub ahead of press |
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| 25. |
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 |
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| 26. |
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.
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| 27. |
Leuzzi, V., C. Carducci, S. Pozzessere, A. Burlina, R. Cerone, D. Concolino, M. A. Donati, L. Fiori, C. Meli, A. Ponzone, F. Porta, P. Strisciuglio, I. Antonozzi and N. Blau (2010). "Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiency." Clin Genet 77: 249-257. |
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| 28. |
Santos, L. L., C. G. Fonseca, A. L. Starling, J. N. Januario, M. J. Aguiar, M. G. Peixoto and M. R. Carvalho "Variations in genotype-phenotype correlations in phenylketonuria patients." Genet Mol Res 9(1): 1-8. |
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| 29. |
Wu-Chou, Y. H., T. H. Yeh, C. Y. Wang, J. J. Lin, C. C. Huang, H. C. Chang, S. C. Lai, R. S. Chen, Y. H. Weng, C. L. Huang and C. S. Lu "High frequency of multiexonic deletion of the GCH1 gene in a Taiwanese cohort of dopa-response dystonia." Am J Med Genet B Neuropsychiatr Genet.Epub ahead of press |
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| 30. |
Noguchi, K., N. Hamadate, T. Matsuzaki, M. Sakanashi, J. Nakasone and M. Tsutsui "Improvement of impaired endothelial function by tetrahydrobiopterin in stroke-prone spontaneously hypertensive rats." Eur J Pharmacol. Epub ahead of press |
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| 31. |
Liu, X., S. S. Zhang, D. F. Fang, M. Y. Ma, X. Y. Guo, Y. Yang and H. F. Shang "GCH1 mutation and clinical study of Chinese patients with dopa-responsive dystonia." Mov Disord.Epub ahead of press |
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| 32. |
Rebuffat, A., C. O. Harding, Z. Ding and T. Beat (2010). "Comparison of AAV Pseudotype 1, 2, and 8 Vectors Administered by Intramuscular Injection in the Treatment of Murine Phenylketonuria." Hum Gene Ther.21:463-477
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| 33. |
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