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Zürich Research Group - Publications
Zurich Research Group - 2008
1. Blau, N. (2008). "Defining tetrahydrobiopterin (BH(4))-responsiveness in PKU." J Inherit Metab Dis 31(1): 2-3.
 
2. Cosentino, F., D. Hurlimann, C. Delli Gatti, R. Chenevard, N. Blau, N. J. Alp, K. M. Channon, M. Eto, P. Lerch, F. Enseleit, F. Ruschitzka, M. Volpe, T. F. Luscher and G. Noll (2008). "Chronic treatment with tetrahydrobiopterin reverses endothelial dysfunction and oxidative stress in hypercholesterolaemia." Heart 94(4): 487-92.
 
3. Garcia-Cazorla, A., E. V. Quadros, A. Nascimento, M. T. Garcia-Silva, P. Briones, J. Montoya, A. Ormazabal, R. Artuch, J. Sequeira, N. Blau, J. Arenas, M. Pineda and V. T. Ramaekers (2008). "Mitochondrial diseases associated with cerebral folate deficiency." Neurology 70: 1360-1362.
 
4. Haavik, J., N. Blau and B. Thony (2008). "Mutations in human monoamine-related neurotransmitter pathway genes." Hum Mutat 29: 891-902.
 
5. Horvath, G. A., S. G. Stockler-Ipsiroglu, R. Salvarinova-Zivkovic, Y. P. Lillquist, M. Connolly, K. Hyland, N. Blau, T. Rupar and P. J. Waters (2008). "Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: Evidence of a phenotypic continuum between dominant and recessive forms." Mol Genet Metab. 91: 127-131
 
6. Jaggi, L., M. R. Zurfluh, A. Schuler, A. Ponzone, F. Porta, L. Fiori, M. Giovannini, R. Santer, G. F. Hoffmann, H. Ibel, U. Wendel, D. Ballhausen, M. R. Baumgartner and N. Blau (2008). "Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency." Mol Genet Metab 93(3): 295-305.
 
7. Ramaekers, V. T., J. M. Sequeira, N. Blau and E. V. Quadros (2008). "A milk-free diet downregulates folate receptor autoimmunity in cerebral folate deficiency syndrome." Neuropediatrics 50: 346-352.
 
8. Ramaekers, V. T., J. M. Sequeira, N. Blau and E. V. Quadros (2008). "A milk-free diet downregulates folate receptor autoimmunity in cerebral folate deficiency syndrome." Neuropediatrics 50: 346-352.
 
9. Tasic, V., P. Korneti, Z. Gucev, B. Hoppe, N. Blau and H. I. Cheong (2008). "Atypical presentation of distal renal tubular acidosis in two siblings." Peadiatr Nephrol 23: 1177-1181.
 
10. Thony, B., A. C. Calvo, T. Scherer, R. M. Svebak, J. Haavik, N. Blau and A. Martinez (2008). "Tetrahydrobiopterin shows chaperone activity for tyrosine hydroxylase." J Neurochem. 106: 672-681
 
11. Verbeek, M. M., M. A. Willemsen, R. A. Wevers, A. J. Lagerwerf, N. G. Abeling, N. Blau, B. Thony, E. Vargiami and D. I. Zafeiriou (2008). "Two Greek siblings with sepiapterin reductase deficiency." Mol Genet Metab. 94:403-409
 
12. 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.
 
Zurich Research Group - 2007
13. Fiege, B. and N. Blau (2007). "Assessment of Tetrahydrobiopterin (BH(4)) Responsiveness in Phenylketonuria." J Pediatr 150(6): 627-630.
 
14. Heil, S. G., D. Bekkenkamp, A. S. De Vries, N. Blau, L. A. J. Kluijtmans and H. J. Blom (2007). Total biopterin and GTP cyclohydrolase I mRNA expression levels in tissue of diet-induced hyperhomocyteinemic rats. Chemistry and Biology of Pteridines and Folates. G. Jansen and G. J. Peters. Heilbronn, SPSVerlagsgesellschaft mbH: 472-482.
 
15. Opladen, T., N. Blau and V. T. Ramaekers (2007). The role of folate receptor autoimmunity in cerabral folate deficiency. Chemistry and Biology of Pteridines and Folates. G. Jansen and G. J. Peters. Heilbronn, SPS Verlagsgesellschaft mbH: 438-447.
 
16. Ramaekers, V. T., N. Blau, J. M. Sequeira, M. C. Nassogne and E. V. Quadros (2007). "Folate receptor autoimmunity and cerebral folate deficiency in low-functioning autism with neurological deficits." Neuropediatrics 38(6): 276-81.
 
17. Tanner, F. C., B. van der Loo, S. Shaw, H. Greutert, M. M. Bachschmid, M. Berrozpe, I. Rozenberg, N. Blau, R. Siebenmann, J. Schmidli, P. Meyer and T. F. Luscher (2007). "Inactivity of nitric oxide synthase gene in the atherosclerotic human carotid artery." Basic Res Cardiol 102: 308-317.
 
18. Verbeek, M. M., G. C. H. Steenbergen-Spanjers, M. A. A. P. Willemsen, F. Hol, J. A. M. Smeitink, J. Seeger, P. Grattan-Smith, M. Ryan, G. F. Hoffmann, M. A. Donati, N. Blau and R. A. Wevers (2007). "Tyrosine hydroxylase deficiency caused by mutations in the cyclic AMP regulatory element of the promoter." Ann Neurol 62: 422-426.
 
19. Widder, J. D., W. Chen, L. Li, S. Dikalov, B. Thony, K. Hatakeyama and D. G. Harrison (2007). "Regulation of Tetrahydrobiopterin Biosynthesis by Shear Stress." Circ Res. Epub ahead of press
 
Zurich Research Group - 2006
20. Abeling, N. G. G. M., M. Duran, H. D. Bakker, A. E. M. Stroomer, B. Thöny, N. Blau and B. T. Poll-The (2006). "Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia." Mol Genet Metab 89: 116-120.
 
21. Blau N, Hoffmann GF, Leonard J, Clarke JTR. Physician's Guide to the Treatment and Follow-up of Metabolic Diseases. Heidelberg: Springer-Verlag, 2006.
 
22. Blau N, PKU and BH4: Advances in Phenylketonuria and Tetrahydrobiopterin. SPS Publications, Heilbronn, 2006
 
23. Blau, N. (2006). "Differentialdiagnose der Hyperphenylalaninämien: Screening auf angeborene Stoffwechselkrankheiten." Kinder- und Jugendmedizin 4: 225-232.[Article in German]
 
24. Blau, N. (2006). Disorders of histidine metabolism. Physician's Guide to the Treatment and Follow-up of Metabolic Diseases. N. Blau, G. Hoffmann, J. Leonard and J. Clarke. Heidelberg, Springer: 57.
 
25. Blau, N. (2006). Nomenclature and laboratory diagnosis of tetrahydrobiopterin deficiencies. PKU and BH4: Advances in Phenylketonuria and Tetrahydrobiopterin. Heilbronn, SPS Verlagsgesellschaft: 555-567.
 
26. Blau, N. and J. L. Dhondt (2006). BIODEF: International database of tetrahydrobiopterin deficiencies. PKU and BH4: Advances in Phenylketonuria and Tetrahydrobiopterin. Heilbronn, SPS Verlagsgesellschaft: 701-706.
 
27. 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.
 
28. 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.
 
29. Friedman, J., K. Hylan, N. Blau and M. Maccollin (2006). "Dopa-responsive hypersomnia and mixed movement disorder due to sepiapterin reductase deficiency." Neurology 67: 2032-2035.
 
30. Hjermind, L. E., L. G. Johannsen, N. Blau, R. A. Wevers, C. B. Lucking, J. M. Hertz, L. Friberg, L. Regeur, J. E. Nielsen and S. A. Sorensen (2005). "Dopa-responsive dystonia and early-onset Parkinson's disease in a patient with GTP cyclohydrolase I deficiency?" Mov Disord. 21:679-682
 
31. Linscheid, P., D. Seboek, H. Zulewski, A. Scherberich, N. Blau, U. Keller and B. Müller (2006). "Inflammation-mediated metabolic effect do not involve endogenous nitric oxide in human adipocytes." AJP 290: 1068-1077.
 
32. Opladen, T., V. T. Ramaekers, G. Heimann and N. Blau (2006). "Analysis of 5-methyltetrahydrofolate in serum of healthy children." Mol Genet Metab. 87:61-65
 
33. Roze, E., M. Vidailhet, N. Blau, L. B. Moller, D. Doummar, T. B. de Villemeur and A. Roubergue (2006). "Long-term follow-up and adult outcome in 6-pyruvoyl-tetrahydropterin synthase deficiency." Movement Dis 21: 263-266.
 
34. Sedel, F., M. J. Ribeiro, P. Remy, N. Blau, J. M. Saudubray and Y. Agid (2006). "Dihydropteridine reductase deficiency: levodopa long term effectiveness without dyskinesia." Neurology 67: 2243-45.
 
35. Thöny, B. and N. Blau (2006). "Mutations in the BH4-metabolizing genes GTP cyclohydroalse I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase genes." Human Mutat 27: 870-878.
 
36. Thöny, B. and N. Blau (2006). BIOMDB: Database of mutations causing tetrahydrobiopterin deficiencies. PKU and BH4: Advances in Phenylketonuria and Tetrahydrobiopterin. Heilbronn, SPS Verlagsgesellschaft: 707-713.
 
37. Van Hove, J. L. K., J. Steyaert, G. Matthijs, E. Legius, P. Theys, R. A. Wevers, A. Romstadt, L. Birk Moller, K. Hedrich, D. Goriounov, N. Blau, C. Klein and P. Casaer (2006). "Expanded phenotype in Segawa syndrome due to GTP cyclohydrolase deficiency." J Neurol Neurosurg Psychiatr 77: 18-23.
 
38. 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
 
Zurich Research Group - 2005
39. Blau N, Duran M, Blaskovics ME, Gibson KM. Physician's Guide to the Laboratory Diagnosis of Metabolic Diseases. 2nd ed. 2nd print. Heidelberg: Springer-Verlag, 2005.
 
40. 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 .
 
41. Demos, M. K., P. J. Waters, H. D. Vallance, Y. Lillquist, N. Makhseed, K. Hyland, N. Blau and M. B. Connolly (2005). "6-Pyruvoyl-tetrahydropterin synthase deficiency with mild hyperphenylalaninemia." Ann Neurol 58(1): 164-167.
 
42. 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
 
43. 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
 
44. Kaindl, A. M., D. Steinberger, G. Heubner, U. Müller, N. Blau, K. Neubert, B. Kunath and M. von der Hagen (2005). "Phenotype of five patients with dopa-responsive dystonia and mutations in GCH1." J Padiatr Neurol 3: 83-87.
 
45. 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.
 
46. Sajadi, A., M. Bauer, B. Thony and P. Aebischer (2005). "Long-term glial cell line-derived neurotrophic factor overexpression in the intact nigrostriatal system in rats leads to a decrease of dopamine and increase of tetrahydrobiopterin production." J Neurochem 93(6): 1482-6.
 
47. 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
 
48. 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
 
49. Waters, P. J., M. Khashu, Y. Lillquist, C. Senger, A. Mattman, M. Demos, K. Setchell, A. Rupar, P. Scott, N. Blau and H. D. Vallance (2005). "Neonatal hyperphenylalaninemia, perinatal hemochromatosis, and renal tubulopathy: A unique patient or a novel metabolic disorder?" Mol Genet Metab. 86:S148-S152
 
50. Zurflüh, M. R., M. Giovannini, L. Fiori, B. Fiege, Y. Gokdemir, T. Baykal, L. Kierat, K. H. Gärtner, B. Thöny and N. Blau (2005). "Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper " Mol Genet Metab: 86:S96-S103
 
Zurich Research Group - 2004
51. Blau, N. and H. Erlandsen (2004). "The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency." Mol Genet Metab: 82:101-111.
 
52. Elzaouk, L., S. Laufs, D. Heerklotz, W. Leimbacher, N. Blau, A. Résibois and B. Thöny (2004). "Nuclear localization of tetrahydrobiopterin biosynthetic enzymes." Biochim Biophys Acta 1670: 56-68.
 
53. 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
 
54. Franscini, N., E. B. Bachli, N. Blau, M. S. Leikauf, A. Schaffner and G. Schoedon (2004). "Gene expression profiling of inflamed human endothelial cells and influence of activated protein C." Circulation 110(18): 2903-9.
 
55. Franscini, N., N. Blau, E. B. Bächli, M. Fischler, A. Schaffner and G. Schoedon (2004). "Functional tetrahydrobiopterin biosynthesis in human platlets." Circulation 110: 186-192.
 
56. Harding, C. O., M. Neff, K. Wild, K. Jones, L. Elzaouk, B. Thöny and S. Milstien (2004). "The fate of intravenously administered tetrahydrobiopterin and its implications for heterologous gene therapy of phenylketonuria." Mol Genet Metab: 81:52-57
 
57. Saunders-Pullman, R., N. Blau, K. Hylan, J. Zschocke, T. Nygaard, D. Raymond, V. Shanker, K. Mohrmann, L. Arnold, S. Tabbal, D. deLeon, B. Ford, M. Brin, S. Chouinard, L. Ozelius, C. Klein and S. B. Bressman (2004). "Phenylalanine loading as a diagnostic test for Dopa-responsive dystonia: Interpreting the utility of the test." Mol Genet Metab 83: 207-212.
 
58. 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.
 
Zurich Research Group - 2003
59. Abeling, N. G. G. M., M. Duran, H. D. Bakker, A. G. van Cruchten, A. E. M. Stroomer, B. Thöny, N. Blau and B. T. Poll-The (2003). Cerebral methylmalonic aciduria does not exist: a patient with sepiapterin reductase deficiency. Pterins, Folates, and Biogenic Amines in Biology and Medicine. N. Blau and B. Thöny. Heilbronn, SPS Verlagsgesellschaft: 127-131.
 
60. Blau N, Bonafé L, Blaskovics ME. "Disorders of phenylalanine and tetrahydrobiopterin metabolism". In: Blau N, Duran M, Blaskovics ME, Gibson KM, eds. Physician's Guide to the Laboratory Diagnosis of Metabolic Diseases. 2nd ed. Heidelberg: Springer-Verlag, 2003: 89-106.
 
61. Elzaouk, L., W. Leimbacher, M. Turri, B. Ledermann, K. Bürki, N. Blau and B. Thöny (2003). "Dwarfism and low IGF-1 due to dopamine depletion in Pts-/- mice rescued by feeding neurotransmitter precursors and H4-biopterin." J Biol Chem 278: 28303-28311.
 
62. Franscini, N., N. Blau, A. Schaffner, R. B. Walter and G. Schoedon (2003). "Critical role of interleukin-1beta for transcriptional regulation of endothelial 6-pyruvoly-tetrahydropterin synthase." Arterioscler Thromb Vasc Biol 23: 1990 - 1994.
 
63. Leitner, K. L., M. Meyer, W. Leimbacher, A. Peterbauer, S. Hofer, C. Heufler, A. Muller, R. Heller, E. R. Werner, B. Thony and G. Werner-Felmayer (2003). "Low tetrahydrobiopterin biosynthetic capacity of human monocytes is caused by exon skipping in 6-pyruvoyl tetrahydropterin synthase." Biochem J 373(Pt 3): 681-8.
 
64. N. Blau, L. Bonafe, I. Krageloh-Mann, B. Thony, L. Kierat, M. Hausler, and V. Ramaekers (2003) Cerebrospinal fluid pterins and folates in Aicardi-Goutieres syndrome: A new phenotype. Neurology ; 61: 642-648
 
65. Nardocci, N., G. Zorzi, N. Blau, E. Fernandez Alvarez, M. Sesta, L. Angelini, M. Pannacci, F. Invernizzi and B. Garavaglia (2003). "Neonatal Dopa-responsive extrapyramidal syndrome in twins with recessive GTPCH deficiency." Neurology 60: 335-337.
 
66. V.T. Ramaekers, S.I. Hansen, J. Holm, T. Opladen, J. Senderek, M. Hausler, G. Heimann, B. Fowler, R. Maiwald, and N. Blau (2003) Reduced folate transport to the CNS in female Rett patients Neurology ; 61: 506-514
 
Zurich Research Group - 2002
67. 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.
 
68. 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
 
69. 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.
 
70. Elzaouk L, Osmani H, Romstad A, Friedman J, Maccollin M, Thöny B, Blau N. Sepiapterin reductase deficiency: Molecular analysis in a new case presenting with neurotransmitter deficiency without hyperphenylalaninemia. In: Milstien S, Kapatos G, Levine RA, Shane B, eds. Chemistry and Biology of Pteridines and Folates. Norwell: Kluwer Academic Publishers, 2002: 277-284.
 
71. Koch R, Güttler F, Blau N. Mental illness in mild PKU responds to biopterin. Mol Genet Metab 2002;75:284-286.
 
72. Ramaekers, V. T., M. Hausler, T. Opladen, G. Heimann and N. Blau (2002). "Psychomotor retardation, spastic paraplegia, cerebellar ataxia and dyskinesia associated with low 5-methyltetrahydrofolate in cerebrospinal fluid: a novel neurometabolic condition responding to folinic Acid substitution." Neuropediatrics 33(6): 301-8.
 
73. Zorzi G, Redweik U, Trippe H, Penzien JM, Thöny B, Blau N. Detection of sepiapterin in CSF of patients with sepiapterin reductase deficiency. Mol Genet Metab 2002;75:174-177.
 
74. Zorzi G, Thöny B, Blau N. Reduced nitric oxide metabolites in CSF of patients with tetrahydrobiopterin deficiency. J Neurochem 2002;80:362-364.
 
Zurich Research Group - 2001
75. Blau N, Bonafé L, Thöny B. Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: Diagnosis and genetics of Dopa-responsive dystonia and sepiapterin reductase deficiency. Mol Genet Metab 2001; 74, 172-185
 
76. 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, eds. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York: McGraw-Hill, 2001: 1725-1776.
 
77. Bonafe L, Blau N, Burlina AP, Romstad A, Guttler F, Burlina AB. Treatable neurotransmitter deficiency in mild phenylketonuria. Neurology 2001;57:908-910.
 
78. Bonafé L, Thöny B, Leimbacher W, Kierat L, Blau N. Diagnosis of Dopa-responsive dystonia and other tetrahydrobiopterin disorders by the study of biopterin metabolism in fibroblasts. Clin Chem 2001;47:477-485.
 
79. Bonafé L, Thöny B, Penzien JM, Czarnecki B, Blau N. Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine neurotransmitter deficiency without hyperphenylalaninemia. Am J Hum Genet 2001;69:269-277
 
80. Dudesek A, Röschinger W, Muntau AC, Seidel J, Leupold D, Thöny B, Blau N. Molecular analysis and long term follow-up of patients with different forms of 6-pyruvoyl-tetrahydropterin synthase deficiency. Eur J Pediatr 2001:267-276.
 
81. Schallreuter KU, Moore J, Wood JM, Beazley WD, Peters EM, Marles LK, Behrens-Williams SC, Dummer R, Blau N, Thony B. Epidermal H2O2 accumulation alters tetrahydrobiopterin (6BH4) recycling in vitiligo: Identification of a general mechanism in regulation of all 6BH4-dependent processes? J Invest Dermatol 2001;116(1):167-174.
 
82. Skrygan M, Bartholomé B, Bonafé L, Blau N, Bartholomé K. A splice mutation in the GTP cyclohydrolase I gene causes Dopa-responsive dystonia by exon skipping. J Inherit Metab Dis 2001;24:i345-351.
 
83. 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.
 
Zurich Research Group - 2000
84. Ayling JE, Bailey SW, Braegger CP, Giugliani R, Boerth SR, Thöny B, Blau N. Hyperphenylalaninemia and 7-Pterin Excretion Associated with Mutations in 4a-Hydroxytetrahydrobiopterin Dehydratase/DCoH: Analysis of Enzyme Activity in Intestinal Biopsies. Mol Gen Metabol 2000;70: 179-188
 
85. Blau N, Scherer-Oppliger T, Baumer A, Riegel M, Matasovic A, Schinzel A, Jaeken J, Thöny B. Isolated central form of tetrahydrobiopterin deficiency associated with hemizygosity on chromosome 11q and a mutant allele of PTPS. Human Mutat 2000:16:54-60
 
86. Bonafé L, Troxler H, Kuster T, Heizmann CW, Chamoles NA, Blau N. Evaluation of urinary acylglycines by electrospray tandem mass spectrometry in mitochondrial energy metabolism and organic acidurias. Molec Gen Metab 2000: 69: 302-311
 
87. de Sanctis L, Alliaudi C, Spada M, Farrugia R, Cerone R, Bisucci G, Meli C, Zammarchi E, Coskun T, Blau N, Ponzone A, Dianzani I. Genotype-phenotype correlation in dihydropteridine reductase deficiency. J Inher Metabol Dis 2000;23:333-337.
 
88. Fischer JE, Brunner A, Janousek M, Nadal D, Blau N, Fanconi S. Diagnostic potential of neutrophil elastase inhibitor complex in the routine care of critically ill newborn infants [In Process Citation]. Eur J Pediatr 2000;159(9):659-62.
 
89. Laufs S, Kim SH, Kim S, Blau N, Thöny B. Reconstitution of a metabolic pathway with triple-cistronic IRES-containing retroviral vectors for correction of tetrahydrobiopterin deficiency. J Gene Med 2000;2: 22-31
 
90. Schuler A, Kalmanchey R, Barsi P, Somogoyi CS, Toros I, Varadi I, Kovacs A, Blau N. Deprenyl in the treatment of patients with tetrahydrobiopterin deficiency. J Inherit Metab Dis 2000;23:329-332
 
91. Surtees R, Blau N. Neurochemistry of phenylketonuria. Eur J Pediatr 2000;69:302-311
 
92. Thöny B, Auerbach G, Blau N. Tetrahydrobiopterin biosynthesis, regeneration, and functions. Biochem J 2000:347:1-16
 
93. Walter R, Blau N, Kierat L, Schoedon G, Reinhart WH. Systemic tetrahydrobiopterin (BH4) levels and coronary artery disease. Cardiology 2000;94(4):265-266.
 
Zurich Research Group - 1999
94. Blau N, Thöny B, Renneberg A, Penzien JM, Hyland K, Hoffmann G. Variant of dihydropteridine reductase deficiency without hyperphenylalaninemia: Effect of oral phenylalanine loading. J Inher Metab Dis 1999; 22:216-220
 
95. Coskun T, Karagöz T, Kalkanoglu S, Tokatli A, Özalp I, Thöny B, Blau N. Guanosine triphosphate cyclohydrolase I deficiency: A rare cause of hyperphenylalaninemia. Tur J Pediatr 1999;41:231-237
 
96. Resibois A, Cuvelier L, Svoboda M, Heizmann CW, Thony B. Immunohistochemical localisation of pterin-4 alpha-carbinolamine dehydratase in rat peripheral organs. Histochem Cell Biol 1999;111(5):381-390.
 
97. Romstad A, Guldberg P, Levy HL, Blau N, Güttler F. Single-step mutation scanning of the 6-pyruvoyl-tetrahydropterin synthase gene in patients with hyperphenylalaninemia. Clin Chem 1999;45:2102-2108.
 
98. Scherer Oppliger T, Leimbacher W, Blau N, Thöny B. Serine 19 of human 6-pyruvoyl-tetrahydropterin synthase is a substrate for cGMP-protein kinase II-dependent phosphorylation. J Biol Chem 1999;274:31341-31348.
 
99. Scherer-Oppliger T, Matasovic A, Laufs S, Levy HL, Quackenbush EJ, Blau N, Thöny B. Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyl-tetrahydropterin synthase deficiency causing transient hyperphenylalaninemia. Hum Mutat 1999;13:286-289.
 
Zurich Research Group - 1998
100. Birnbacher, R., S. Scheibenreiter, N. Blau, C. Bieglmayer, H. Frisch and F. Waldhauser (1998). "Hyperprolactinemia - a tool in treatment control of tetrahydrobiopterin deficiency. Endocrine studies in an affected girl." Pediatr Res 43: 472-477.
 
101. Blau N, Hoffmann GF. Differential diagnosis of disorders of biogenic amines metabolism. Eur J Pediatr Neurol 1998;2:219-220.
 
102. Blau N, Thöny B, Renneberg A, Arnold LA, Hyland K. Dihydropteridine reductase deficiency localized to the central nervous system. J Inher Metabol Dis 1998;21:433-434.
 
103. Dianzani I, de Santis L, Smooker PM, Gough TJ, Alliaudi C, Brusco A, Spada M, Blau N, Dobos M, Zhang HP, Yang N, Ponzone A, Armarego WLF, Cotton RGH. Dihydropteridine reductase deficiency: Physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations. Hum Mutat 1998;12:267-273.
 
104. Laufs S, Blau N, Thöny B. Retrovirus-mediated double transduction of the GTPCH and PTPS genes allows 6-pyruvoyl-tetrahydropterin synthase deficient human fibroblasts to synthesize and release tetrahydrobiopterin. J Neurochem 1998;71:233-40.
 
105. Linscheid P, Schaffner A, Blau N, Schoedon G. Regulation of 6-pyruvoyl-tetrahydropterin synthase activity and messenger RNA abundance in human vascular endothelial cells. Circulation 1998;98:1703-1706.
 
106. Linscheid P, Schaffner A, Blau N, Schoedon G. Tetrahydrobiopterin enhances expression of inducible nitric oxide synthase in vascular smooth muscle cells by stabilizing its messenger RNA. Biochem Biophys Res Commun 1998;in press.
 
107. Thöny B, Neuheiser F, Kierat L, Blaskovics M, Arn PH, Ferreira P, Rebrin I, Ayling J, Blau N. Hyperphenylalaninemia with high levels of 7-biopterin in association with mutant PCBD gene encoding the bifunctional protein pterin-4a-carbinolamine dehydratase (PCD) and transcriptional coactivator (DCoH). Am J Hum Genet 1998;62:1302-1311.
 
108. Thöny B, Neuheiser F, Kierat L, Rolland MO, Guibaud P, Schlüter T, Germann R, Heidenreich RA, Duran M, de Klerk JBC, Ayling J, Blau N. Mutations in the pterin-4a-carbinolamine dehydratase gene cause a benign form of hyperphenylalaninemia. Hum Genet 1998;103:162-167.
 
109. Walter R, Linscheid P, Blau N, Kierat L, Schaffner A, Schoedon G. Induction of tetrahydrobiopterin synthesis in human umbilical vein smooth muscle cells by inflammatory stimuli. Immunol Lett 1998;60:13-17.
 
Zurich Research Group - 1997
110. Blau N, Dhondt JL, Dianzani I, Thöny B. (1997) BIODEF and BIOMDB international databases of tetrahydrobiopterin deficiencies. In: Chemistry and Biology of Pteridines and Folates (eds. W Pfleiderer, H Rokos), pp 719-726. Blackwell Scientific, Berlin.
 
111. Braegger C, Schwöbel M, von Känel J, Werner ER, Thöny B, Blau N. Tetrahydrobiopterin in the treatment of infantile hypertrophic pyloric stenosis. Biochem Mol Med 62 (1997) 101-105
 
112. Hoppe B, Danpure CJ, Fryer P, Rumsby G, Jennings PR, Blau N, Schubiger G, Neuhaus T, Schneemann M, Schoedon G, Linschied P, Blau N, Walter R, Schaffner A. Nitrite generation in interleukin-4 treated human macrophage cultures does not involve the nitric oxide synthase pathway. J Infec Dis 1997;175:130-135.
 
113. Laffranchi R, G. Schoedon, N. Blau, G.A. Spinas. Tetrahydrobiopterin synthesis proceeds nitric oxide-dependent inhibition of insulin secretion in INS1 rat pancreatic b-cells. Bioche Biophys Res Commun 233 (1997):66-70
 
114. Oppliger T, Thöny B, Kluge C, Matasovic A, Heizmann CW, Ponzone A, Spada M, Blau N. Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families. Hum Mutation 1997;10:25-36.
 
115. Schallreuter KU, Blau N. GTP cyclohydrolase and vitiligo. Lancet 350 (1997): 1534.
 
116. Thöny B, Blau N. "Mutations in the GTP cyclohydrolase I and 6-pyruvoyltetrahydropterin synthase genes." Hum Mutation 10 (1997): 11-20
 
117. Thöny B, Leimbacher W, Scherer-Oppliger T, Heizmann CW, Blau N. (1997) Molecular analysis of tetrahydrobiopterin deficiency due to 6-pyruvoyl-tetrahydropterin synthase mutations:2D gel analysis of in vivo phosphorylation state. In: Chemistry and Biology of Pteridines and Folates (eds. W Pfleiderer, H Rokos), pp in press. Bleckwell Scientific, Berlin.
 
118. Thöny B, Neuheiser F, Heizmann CW, Rebrin I, Ayling J, Blau N. (1997) Transient hyperphenylalaninemia and high levels of urinary 7-biopterin are associated with mutations in the PCBD gene encoding the bifunctional protein pterin-4a-carbinolamine dehydratase (PCD) and transcriptional coactivator (DCoH). In: Chemistry and Biology of Pteridines and Folates (eds. W Pfleiderer, H Rokos), pp 733-735. Blackwell Scientific, Berlin.
 
119. Walter R, Blau N, Schaffner A, Schneemann M, Speich R, Stocker R, Naujeck B, Schoedon G. Inhalation of the nitric oxide synthase cofactor tetrahydrobiopterin in healthy volunteers. Am J Resp Critic Care Med 156 (1997): 2006-10
 
Zurich Research Group - 1996
120. Blau N, Beck M, Matern D. Tetrahydrobiopterin induced neonatal tyrosinaemia. Euro J Pediatr 1996;155(9):832.
 
121. Blau N, Blaskovics M. Hyperphenylalaninemia. In: Blau N, Duran M, Blaskovics M, eds. Physician's Guide to the Laboratory Diagnosis of Metabolic Diseases. London: Chapman & Hall, 1996: 65-78.
 
122. Blau N, Deklerk JBC, Thony B, Heizmann CW, Kierat L, Smeitink JAM, Duran M. Tetrahydrobiopterin loading test in xanthine dehydrogenase and molybdenum cofactor deficiencies. Biochem Mol Med 1996;58(2):199-203.
 
123. Blau, N. The Hyperphenylalaninemias. A Differential Diagnosis and International Database of Tetrahydrobiopterin Deficiencies. Marburg: Tectum Verlag, 1996.
 
124. Blau, N., I. Barnes, and J. L. Dhondt. "International database of tetrahydrobiopterin deficiencies." J Inherit Metab Dis 19 (1996): 8-14.
 
125. de Sanctis, L., C. Alliaudi, M. Spada, R. Cerone, G. Biasucci, N. Blau, A. Ponzone, and I. Dianzani. "Mutations and phenotypes in dihydropteridine reductase deficiency in Italy." Pteridines 7 (1996): 103-106.
 
126. John K, Nahrath B, Blau N, Wiesmann W. 6-Pyruvoyl-Tetrahydropterin-Synthase-Mangel. In: Gross-Selbeck G, ed. Aktuelle Neuropädiatrie 1995. Wehr/Baden: Ciba-Geigy Verlag, 1996: 255-261.
 
127. Kluge C, Brecevic L, Heizmann CW, Blau N, Thöny B. Chromosomal localization, genomic structure and characterization of a single human gene (PTS) and retropseudogene for 6-pyruvoyltetrahydropterin synthase. Eur J Biochem 1996;240:477-484.
 
128. Plüss C, Werner ER, Blau N, Wachter H, Pfeilschifter J. Interleukin 1-beta and cAMP trigger the expression of GTP cyclohydrolase I in rat renal mesangial cells. Biochemical Journal 1996;318(Part 2):665-671.
 
129. Spada, M., N. Blau, C. Meli, G.B. Ferrero, L. de Sanctis, S. Ferraris, and A. Ponzone. "Different strategies in the treatment of dihydropteridine reductase deficiency." Pteridines 7 (1996): 107-109.
 
130. Spada, M., S. Ferraris, G. B. Ferrero, M. Sartore, C. Lanza, F. Perfetto, L. de Sanctis, C. Dompe, N. Blau, and A. Ponzone. "Monitoring treatment in tetrahydrobiopterin deficiency by serum prolactin." Journal of Inherited Metabolic Disease 19, 2 (1996): 231-233.
 
131. Thöny, B., W. Leimbacher, H. Stuhlmann, C.W. Heizmann, and N. Blau. "Retrovirus-mediated gene transfer of 6-pyruvoyl-tetrahydropterin synthase corrects tetrahydrobiopterin deficiency in fibroblasts from hyperphenylalaninemic patients." Hum Gene Ther 7 (1996): 1591-1597.
 
Zurich Research Group - 1992
132. Blau, N., C. W. Heizmann, W. Sperl, G. C. Korenke, G. F. Hoffmann, P. M. Smooker and R. G. H. Cotton (1992). "Atypical (mild) forms of dihydropteridine reductase deficiency - Neurochemical evaluation and mutation detection." Pediatr. Res. 32: 726-730.
 
Zurich Research Group - 1987
133. Laufs S, Leimbacher W, Kim S, Blau N, Thöny B. Alternative, gene therapeutic approaches to treatment of tetrahydrobiopterin deficeincy by gene transfer: Generation of retroviral vectors. In: Pfleiderer W, Rokos H, eds. Chemistry and Biology of Pteridines and Folates. Berlin: Blackwell Scientific, 1997: 737-740.
 
 


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