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 NENAD BLAU
 PhD
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Horst-Bickel Award 2001
Gowland Hopkins Lecture 2005


 

  
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Nenad Blau, PhD - Publications
N. Blau Literature - 2011
1. Adamsen, D., D. Meili, N. Blau, B. Thny and V. T. Ramaekers (2011). "Autism associated with low 5-hydroxyindolacetic acid in CSF and the heterozygous SLC6A4 gene Gly56Ala plus 5-HTTLPR L/L promoter variants." Mol Genet Metab 102: 368-373
 
2. Cario, H., D. E. Smith, H. Blom, N. Blau, H. Bode, K. Holzmann, U. Pannicke, K. P. Hopfner, E. M. Rump, Z. Ayric, E. Kohne, K. M. Debatin, Y. Smulders and K. Schwarz (2011). "Dihydrofolate Reductase Deficiency Due to a Homozygous DHFR Mutation Causes Megaloblastic Anemia and Cerebral Folate Deficiency Leading to Severe Neurologic Disease." Am J Hum Genet 88(2): 226-31.
 
3. Dill, P., M. Wagner, A. Somerville, B. Thny, N. Blau and P. Weber (2011). "Paroxysmal stiffening, upward gaze, and hypotonia in infancy: clinical hallmarks of sepiapterin reductase deficiency, a very rare but treatable disorder of neurotransmitter metabolism." Neurology: in press.
 
4. Dobrowolski, S. F., C. Heintz, T. Miller, C. R. Ellingson, C. C. Ellingson, I. zer, G. Gkcay, T. Baykal, B. Thny, M. Demirkol and N. Blau (2011). "Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin-responsiveness in Turkish PKU population." Mol Genet Metab 10: 116-121.
 
5. Friedman, J., E. Roze, J. E. Abdenur, R. Chang, S. Gasperini, V. Saletti, G. M. Wali, H. Eiroa, B. Neville, A. Felice, R. Parascandalo, D. I. Zafeiriou, L. Arrabal-Fernandez, P. Dill, F. S. Eichler, B. Echenne, L. G. Gutierrez-Solana, G. F. Hoffmann, K. Hyland, K. Kusmierska, M. A. J. Tijssen, T. Lutz, M. Mazzuca, J. Penzien, B. T. Poll-The, J. Sykut-Cegielska, K. Szymanska, B. Thny and N. Blau (2011). "Sepiapterin Reductase Deficiency: a treatable mimic of cerebral palsy." Ann Neurol: in press.
 
6. Mangold, S., N. Blau, T. Opladen, R. Steinfeld, B. Wessling, K. Zerres and M. Husler (2011). "Cerebral folate deficiency: a neurometabolic syndrome?" Mol Genet Metab: doi:10.1016/j.ymgme.2011.06.004.
 
7. Nalin, T., I. D. Perry, A. Sitta, C. R. Vargas, M. L. Saraiva-Pereira, R. Giugliani, N. Blau and I. V. Schwartz (2011). "Optimized loading test to evaluate responsiveness to tetrahydrobiopterin (BH(4)) in Brazilian patients with phenylalanine hydroxylase deficiency." Molecular genetics and metabolism. Epub ahead of press
 
8. Opladen, T., B. Abu Seda, A. Rassi, B. Thony, G. F. Hoffmann and N. Blau (2011). "Diagnosis of tetrahydrobiopterin deficiency using filter paper blood spots: further development of the method and 5 years experience." Journal of inherited metabolic disease 34(3): 819-26.
 
9. Staudigl, M., S. W. Gersting, M. K. Danecka, D. D. Messing, M. Woidy, D. Pinkas, K. F. Kemter, N. Blau and A. C. Muntau (2011). "The interplay between genotype, metabolic state and cofactor treatment governs phenylalanine hydroxylase function and drug response." Human molecular genetics 20(13): 2628-41.
 
10. Tasic, V., V. J. Lozanovski, Z. Gucev, N. Blau, H. I. Cheong and J. A. Sayer (2011). "Failure to thrive and nephrolithiasis in a boy with congenital cyanotic heart anomaly." Pediatr Nephrol: DOI 10.1007/s00467-011-1786-0
 
11. Werner, E. R., N. Blau and B. Thny (2011). "Tetrahydrobiopterin: biochemistry and pathophysiology." Biochem J 438: 397-414.
 
N. Blau Literature - 2010
12. Blau, N. (2010). "Sapropterin dihydrochloride for phenylketonuria and tetrahydrobiopterin deficiency." Expert Rev Endocrinol Metab 5(4): 483-494.
 
13. 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.
 
14. Blau, N., F. J. Van Spronsen and H. L. Levy (2010). "Phenylketonuria." Lancet 376: 1417-1427.
 
15. Brun, L., L. H. Ngu, W. T. Keng, G. S. Chng, Y. S. Choy, W. L. Hwu, W. T. Lee, M. A. A. P. Willemsen, M. V. Verbeek, T. Wassenberg, L. Rgal, S. Orcesi, P. Accorsi, D. Tonduti, H. Tstard, J. A. Abdenur, S. Tay, G. F. Allen, S. Heales, I. Kern, M. Kato, A. Burlina, C. Manegold, G. F. Hoffmann and N. Blau (2010). "Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency." Neurology 75: 64-71.
 
16. de Groot, M. J., M. Hoeksma, N. Blau, D. J. Reijngoud and F. J. van Spronsen (2010). "Pathogenesis of cognitive dysfunction in phenylketonuria: review of hypotheses." Mol Genet Metab 99 Suppl 1: S86-9.
 
17. 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.
 
18. Harding, C. O. and N. Blau (2010). "Advances and challanges in phenylketonuria." J Inher Metab Dis 33: 645648.
 
19. Hasselmann, O., N. Blau, V. T. Ramaekers, E. V. Quadros, J. Sequeira and M. Weissert (2010). "Cerebral folate deficiency and CNS inflammatory markers in Alpers disease " Mol Genet Metab 99: 58-61.
 
20. 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.
 
21. Opladen, T., J. G. Okun, P. Burgard, N. Blau and G. F. Hoffmann (2010). "Phenylalanine loading in pediatric patients with dopa-responsive dystonia: revised test protocol and pediatric cut-off values." J Inerit Metab Dis: 33:697-703
 
22. Opladen, T., N. Blau and V. T. Ramaekers (2010). "Effect of antiepileptic drugs and reactive oxygen species on folate receptor 1 (FOLR1) - dependent 5-methyltetrahydrofolate transport" Mol Genet Metab 101: 48-54.
 
23. Spasovski, G., B. B. Beck, N. Blau, B. Hoppe and V. Tasic (2010). "Late diagnosis of primary hyperoxaluria after failed kidney transplantation." Am J Kid Dis: 42:825-829
 
24. Wali, G. M., B. Thony and N. Blau "Sepiapterin reductase deficiency: Two Indian siblings with unusual clinical features." Mov Disord. 25(7): 954-5.
 
25. Willemsen, M. A., M. M. Verbeek, E. J. Kamsteeg, J. F. de Rijk-van Andel, A. Aeby, N. Blau, A. Burlina, M. A. Donati, B. Geurtz, P. J. Grattan-Smith, M. Haeussler, G. F. Hoffmann, H. Jung, J. B. de Klerk, M. S. van der Knaap, F. Kok, V. Leuzzi, P. de Lonlay, A. Megarbane, H. Monaghan, W. O. Renier, P. Rondot, M. M. Ryan, J. Seeger, J. A. Smeitink, G. C. Steenbergen-Spanjers, E. Wassmer, B. Weschke, F. A. Wijburg, B. Wilcken, D. I. Zafeiriou and R. A. Wevers (2010). "Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis." Brain 133(Pt 6): 1810-22.
 
N. Blau Literature - 2009
26. Blau, N. and B. Thony (2009). "Tetrahydrobiopterin in biomedical research." J Inherit Metab Dis 32(1): 1-2.
 
27. 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
 
28. Burlina, A. and N. Blau (2009). "Effect of BH(4) supplementation on phenylalanine tolerance." J Inherit Metab Dis 32(1): 40-5.
 
29. 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.
 
30. 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.
 
31. Kusmierska, K., E. E. Jansen, C. Jakobs, K. Szymanska, E. Malunowicz, D. Meilei, B. Thony, N. Blau, J. Tryfon, D. Rokicki, E. Pronicka and J. Sykut-Cegielska (2009). "Sepiapterin reductase deficiency in a 2-year-old girl with incomplete response to treatment during short-term follow-up." J Inherit Metab Dis: DOI 10.1007/s10545-008-1009-4.
 
32. Meili, D., J. Kralovicova, J. Zagalak, L. Bonafe, L. Fiori, N. Blau, B. Thony and I. Vorechovsky (2009). "Disease-causing mutations improving the branch site and polypyrimidine tract: pseudoexon activation of LINE-2 and antisense Alu lacking the poly(T)-tail." Hum Mutat 30(5): 823-31.
 
N. Blau Literature - 2008
33. Blau, N. (2008). "Defining tetrahydrobiopterin (BH(4))-responsiveness in PKU." J Inherit Metab Dis 31(1): 2-3.
 
34. 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.
 
35. Ding, Z., C. O. Harding, A. Rebuffat, L. Elzaouk, J. A. Wolff and B. Thony (2008). "Correction of murine PKU following AAV-mediated intramuscular expression of a complete phenylalanine hydroxylating system." Mol Ther 16(4): 673-81.
 
36. 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.
 
37. Haavik, J., N. Blau and B. Thony (2008). "Mutations in human monoamine-related neurotransmitter pathway genes." Hum Mutat 29: 891-902.
 
38. 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
 
39. 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.
 
40. 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.
 
41. 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
 
42. 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
 
43. 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.
 
N. Blau Literature - 2007
44. Fiege, B. and N. Blau (2007). "Assessment of Tetrahydrobiopterin (BH(4)) Responsiveness in Phenylketonuria." J Pediatr 150(6): 627-630.
 
45. 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.
 
46. 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.
 
47. 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.
 
48. 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.
 
49. 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.
 
N. Blau Literature - 2006
50. 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.
 
51. Blau N, Hoffmann GF, Leonard J, Clarke JTR. Physician's Guide to the Treatment and Follow-up of Metabolic Diseases. Heidelberg: Springer-Verlag, 2006.
 
52. Blau N, PKU and BH4: Advances in Phenylketonuria and Tetrahydrobiopterin. SPS Publications, Heilbronn, 2006
 
53. Blau, N. (2006). "Differentialdiagnose der Hyperphenylalaninämien: Screening auf angeborene Stoffwechselkrankheiten." Kinder- und Jugendmedizin 4: 225-232.[Article in German]
 
54. 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.
 
55. Blau, N. (2006). Nomenclature and laboratory diagnosis of tetrahydrobiopterin deficiencies. PKU and BH4: Advances in Phenylketonuria and Tetrahydrobiopterin. Heilbronn, SPS Verlagsgesellschaft: 555-567.
 
56. 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.
 
57. 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.
 
58. Echenne, B., A. Roubertie, B. Assmann, T. Lutz, J. M. Penzien, B. Thony, N. Blau and G. F. Hoffmann (2006). "Sepiapterin reductase deficiency: clinical presentation and evaluation of long-term therapy." Pediatr Neurol 35(5): 308-13.
 
59. 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.
 
60. 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
 
61. 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.
 
62. 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
 
63. 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.
 
64. 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.
 
65. Thöny, B. (2006). Tetrahydrobiopterin and its function. PKU and BH4: Advances in Phenylketonuria and Tetrahydrobiopterin Research. N. Blau. Heilbronn, SPS Publications: 503-554.
 
66. 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.
 
67. 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.
 
68. 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.
 
69. 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
 
N. Blau Literature - 2005
70. 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.
 
71. 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 .
 
72. 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.
 
73. 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
 
74. Hansen, F. J. and N. Blau (2005). "Cerebral folate deficiency: life-changing supplementation with folinic acid." Mol Genet Metab 84: 371-373.
 
75. 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
 
76. 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.
 
77. Moller, L. B., A. Romstad, M. Paulsen, P. Hougaard, A. Ormazabal, M. Pineda, N. Blau, F. Guttler and R. Artuch (2005). "Pre- and postnatal diagnosis of tyrosine hydroxylase deficiency." Prenat Diagn 25(8): 671-5.
 
78. 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.
 
79. Ramaekers, V. T., S. P. Rothenberg, J. Sequeira, T. Opladen, N. Blau, E. V. Quadros and J. Selhub (2005). "Autoantibodies against folate receptors of the choroid plexus block folate uptake and cause cerebral folate deficiency in childhood." NEJM 352: 1985-1991.
 
80. 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
 
81. 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
 
82. 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
 
83. Willemsen, M. A. A. P., R. A. Wevers, M. M. Vebeek, V. T. Ramaekers and N. Blau (2005). "Cerebral folate deficiency syndrome." NEJM 353(7): 740., Letter
 
84. 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
 
N. Blau Literature - 2004
85. Blau, N. and C. R. Scriver (2004). "New approach to treat PKU: how far are we?" Mol Genet Metab: 81: 1-2.
 
86. Blau, N. and H. Erlandsen (2004). "The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency." Mol Genet Metab: 82:101-111.
 
87. 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.
 
88. 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.
 
89. 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.
 
90. 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
 
91. 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.
 
92. 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.
 
93. Moretti, P., T. Sahoo, K. Hyland, T. Bottiglieri, P. Peters, D. del Gaudio, B. Roa, S. Curry, H. Zhu, R. H. Finnell, J. L. Neul, V. T. Ramaekers, N. Blau, C. A. Bacino, G. Miller and F. Scaglia (2004). "Cerebral folate deficiency with autism spectrum manifestations and response to folinic acid." Neurology: 64:1088-1090.
 
94. Ramaekers, V. T. and N. Blau (2004). "Cerebral folate deficiency." Develop Med Child Neurol 46: 843-851.
 
95. 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.
 
96. Schiller, A., G. C. H. Steenberger, R. A. Wevers, N. Blau and H. H. Jung (2004). "Long-term course of L-Dopa-responsive dystonia caused by tyrosine hydroxylase deficiency." Neurology 63: 1524-1526.
 
97. Steinberger, D., N. Blau, D. Goriuonov, J. Bitsch, M. Zuker, S. Hummel and U. Muller (2004). "Heterozygous mutation in 5'-untranslated region of sepiapterin reductase gene (SPR) in a patient with dopa-responsive dystonia." Neurogenetics 5(3): 187-90.
 
98. Tasic, V., N. Slaveska, N. Blau and R. Santer (2004). "Neprolithiasis in a child with glucose-galactose malabsorption." Pediatr Nephrol 19: 244-246.
 
99. Thöny, B. and N. Blau (2004). "More transgenic mouse models for dopamine deficiency." Ann Neurol 55: 297-298.
 
N. Blau Literature - 2003
100. 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.
 
101. 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.
 
102. Blau, N. (2003). "Tetrahydrobiopterin control in phenylketonuria." Genet Med 5(1): 57-8.
 
103. Blau, N., B. Thöny, J. Väsquez Vivar and S. Rajagopalan (2003). "Possible impact of tetrahydrobiopterin and sepiapterin on endothelial dysfunction." Arterioscler Thromb Vasc Biol 23: 913-915.
 
104. 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.
 
105. 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.
 
106. 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.
 
107. Milosevic, D., D. Batinic, P. Konjevoda, N. Blau, N. Stambuk, L. Nizic and K. Vrljicak (2003). "Analysis of calcium, oxalate, and citrate interaction in idiopathic calcium urolithiasis in children." J Chem Inf Comput Sci 43(6): 1844-7.
 
108. N. Barisic, P. Logan, S. Pikija, D. Skarpa, N. Blau (2003) R208X Mutation in CLN2 Gene Associated with Reduced Cerebrospinal Fluid Pterins in a Girl with Classic Late Infantile Neuronal Ceroid Lipofuscinosis 44: 489-493
 
109. 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
 
110. 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.
 
111. Trefz, F. K. and N. Blau (2003). "Potential role of tetrahydrobiopterin in the treatment of maternal phenylketonuria." Pediatrics 112: 1566-1569.
 
112. 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
 
113. Wieser, H. G., U. Rudolph, N. Blau, D. Boison, H. G. Imhof, R. Bernays and Y. Yonekawa (2003). "Amino acid composition of brain cysts: levels of excitatory amino acids in cyst fluid fail to predict seizures." Epilepsy Res 55: 191-199.
 
N. Blau Literature - 2002
114. 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.
 
115. 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
 
116. 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.
 
117. 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.
 
118. Blau, N. and A. Muntau (2002). Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. EMG Workshop Results. Friedrichsdorf, Milupa.
 
119. 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.
 
120. Koch R, Güttler F, Blau N. Mental illness in mild PKU responds to biopterin. Mol Genet Metab 2002;75:284-286.
 
121. 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.
 
122. 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.
 
123. 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.
 
124. Zorzi G, Thöny B, Blau N. Reduced nitric oxide metabolites in CSF of patients with tetrahydrobiopterin deficiency. J Neurochem 2002;80:362-364.
 
N. Blau Literature - 2001
125. 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
 
126. 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.
 
127. Bonafe L, Blau N, Burlina AP, Romstad A, Guttler F, Burlina AB. Treatable neurotransmitter deficiency in mild phenylketonuria. Neurology 2001;57:908-910.
 
128. 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.
 
129. 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
 
130. 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.
 
131. Ehlermann P, Redweik U, Blau N, Heizmann CW, Katus HA, Rempis A. Separation of low molecular weight proteins with SDS-PAGE using taurine as a new trailing ion. Gen Physiol Biophys 2001;20:203-207.
 
132. Milardovic S, Grabaric Z, Rumenjak V, Blau N, Milosevic D. Use of ruthenium(III), iron(II), and nickel(II) hexacyanometallate-modified graphite electrode with immobilized oxalate oxidase for the determination of urinary oxalate. JOAAC 2001;84:1927-1933.
 
133. Poppe M, Bonafé L, Steinberger D, Heubner G, Berghäuser M, Müller U, Blau N, Todt H, Hübner C. Dorsalextension der Grosszehe als Symptom eines autosomal-dominanten Segawa-Syndroms. In: Stephani, ed. Tagungsband Aktuelle Neuropädiatrie 2000. Nürnberg: Novartis Verlag, 2001: 280-283.
 
134. Ramaekers VT, Senderek J, Hausler M, Haring M, Abeling N, Zerres K, Bergmann C, Heimann G, Blau N. A novel neurodevelopmental syndrome responsive to 5-hydroxytryptophan and carbidopa. Mol Genet Metab 2001;73(2):179-87.
 
135. 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.
 
136. 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.
 
137. 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.
 
138. Trefz FK, Aulehla-Scholz C, Blau N. Successful treatment of phenylketonuria with tetrahydrobiopterin. Eur J Pediatr 2001;160:315
 
139. Vlaho S, Herwig J, Ehret B, Weis R, Gebhardt B, Kieslich M, Solem E, Blau N, Böhles H. Diagnostik und Therapie der atypischen Phenylketonurie mittels Neurotransmitterbestimmung im Liquor. In: Stephani, ed. Tagungsband Aktuelle Neuropädiatrie 2000. Nürnberg: Novartis Verlag, 2001: 448-449.
 
N. Blau Literature - 2000
140. 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
 
141. Batinic D, Milosevic D, Blau N, Konjevoda P, Stambuk N, Barbaric V, Subat-Dezulovic M, Votava-Raic A, Nizic L, Vrljicak K. Value of the urinary stone promoters/inhibitors ratios in the estimation of the risk of urolithiasis. J Chem Inf Comput Sci 2000;40(3):607-10.
 
142. 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
 
143. 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
 
144. 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.
 
145. 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.
 
146. 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
 
147. Neuhaus T, Belzer T, Blau N, Hoppe B, Sidhu H, Leumann E. Urinary oxalate excretion in urolithiasis and nephrocalcinosis. Arch Dis Child 2000;82:322-326
 
148. 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
 
149. Surtees R, Blau N. Neurochemistry of phenylketonuria. Eur J Pediatr 2000;69:302-311
 
150. Thöny B, Auerbach G, Blau N. Tetrahydrobiopterin biosynthesis, regeneration, and functions. Biochem J 2000:347:1-16
 
151. Walter R, Blau N, Kierat L, Schoedon G, Reinhart WH. Systemic tetrahydrobiopterin (BH4) levels and coronary artery disease. Cardiology 2000;94(4):265-266.
 
N. Blau Literature - 1999
152. 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
 
153. 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
 
154. 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.
 
155. 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.
 
156. 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.
 
N. Blau Literature - 1998
157. 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.
 
158. Blau N, Hoffmann GF. Differential diagnosis of disorders of biogenic amines metabolism. Eur J Pediatr Neurol 1998;2:219-220.
 
159. Blau N, Matasovic A, Lukasiewicz-Weldechowicz A, Heizmann CW, Leumann E. Simultaneous determination of oxalate, glycolate, citrate, and sulfate from dried urine filter paper spots in a pediatric population. Clin Chem 1998;44:1554-1556.
 
160. 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.
 
161. de Koning TJ, Duran M, Dorland L, Goosken R, Van Schaftingen E, Jaeken J, Blau N, Berger R, Poll-The BT. Beneficial effect of L-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficency. Ann Neurol 1998;44(261-265).
 
162. 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.
 
163. Fischer JE, Janousek M, Fischer M, Seifarth FG, Blau N, Fanconi S. Effect of collection and preprocessing methods on neutrophil elastase plasma concentrations. Clin Biochem 1998;31:131-136.
 
164. 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.
 
165. 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.
 
166. 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.
 
167. Milosevic D, Batinic D, Blau N, Konjevoda P, Stambuk N, Votava-Raic A, Barbaric V, Fumic K, Rumenjak V, Stavljenic-Rukavina A, Nizic L, Vrljicak K. Determination of urine saturation with computer program Wquil 2 as a method for estimation of the risk of urolithiasis. J Chem Inf Comput Sci 1998;38:646-650.
 
168. 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.
 
169. 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.
 
170. Turri MO, Ilg EC, Thöny B, Blau N. Structure, genomic localization, and recombinant expression of the mouse 6-pyruvoyl-tetrahydropterin synthase gene. Biol Chem 1998;379:1441-1447.
 
171. 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.
 
N. Blau Literature - 1997
172. 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.
 
173. 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
 
174. 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.
 
175. Hoppe B, Hesse A, Neuhaus T, Fanconi S, Blau N, Roth B, Leumann E. Influence of nutrition on urinary oxalate and calcium in preterm and term infants. Pediatr Nephrol 1997 11, 687-690.
 
176. Hoppe, B., C.J. Danpure, P. Fryer, G. Rumsby, P.R. Jennings, N. Blau, G. Schubiger, T. Neuhaus, and E. Leumann. "A vertical (pseudodominant) pattern of inheritance in the autosomal recessive disease primary hyperoxaluria type 1. Lack of relationship between genotype, enzymic phenotype and disease severity." Am J Kid Dis 29,36-44 (1997).
 
177. 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
 
178. 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.
 
179. Schallreuter KU, Blau N. GTP cyclohydrolase and vitiligo. Lancet 350 (1997): 1534.
 
180. Schneemann, M., G. Schoedon, P. Linschied, N. Blau, R. Walter, and A. Schaffner. "Nitrite generation in interleukin-4 treated human macrophage cultures does not involve the nitric oxide synthase pathway." J Infec Dis 175 (1997):130-135.
 
181. Thöny B, Blau N. "Mutations in the GTP cyclohydrolase I and 6-pyruvoyltetrahydropterin synthase genes." Hum Mutation 10 (1997): 11-20
 
182. 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.
 
183. 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.
 
184. 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
 
N. Blau Literature - 1996
185. Blau N, Beck M, Matern D. Tetrahydrobiopterin induced neonatal tyrosinaemia. Euro J Pediatr 1996;155(9):832.
 
186. 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.
 
187. 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.
 
188. Blau, N. The Hyperphenylalaninemias. A Differential Diagnosis and International Database of Tetrahydrobiopterin Deficiencies. Marburg: Tectum Verlag, 1996.
 
189. Blau, N., B. Thöny, M. Spada, and A. Ponzone. "Tetrahydrobiopterin and inherited hyperphenylalaninemias." Turk J Pediatr 38 (1996): 19-35.
 
190. Blau, N., I. Barnes, and J. L. Dhondt. "International database of tetrahydrobiopterin deficiencies." J Inherit Metab Dis 19 (1996): 8-14.
 
191. Blau, N., M. Duran, and M. Blaskovics. "Simple tests in urine and blood." In Physician's Guide to the Laboratory Diagnosis of Metabolic Diseases, edited by N. Blau, M. Duran and M. Blaskovics, 3-11. London: Chapman & Hall, 1996.
 
192. Blau, N., M. Duran, and M. Blaskovics. Physician's Guide to the Laboratory Diagnosis of Metabolic Diseases. London: Chapman and Hall, 1996.
 
193. 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.
 
194. 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.
 
195. 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.
 
196. Kluge C, Leimbacher W, Heizmann CW, Blau N, Thöny B. Isolation of 6-pyruvoyl-tetrahydropterin synthase cDNAs from human brain. Pteridines 1996;7:91-93.
 
197. Kluge, C., W. Leimbacher, C.W. Heizmann, N. Blau, and B. Thöny. "Isolation of 6-pyruvoyl-tetrahydropterin synthase cDNAs from human brain." Pteridines 7 (1996): 91-93.
 
198. 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.
 
199. 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.
 
200. 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.
 
201. Superti-Furga, A. , J. Hastbacka, W.R. Wilcox, D.H. Cohn, H.J. van der Harten, A. Rossi, N. Blau, D.L. Rimoin, B. Steinmann, E.S. Lander, and R. Gitzelmann. "Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulp transporter gene." Nature Genetics 12, 1 (1996): 100-102.
 
202. 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.
 
203. Walter R, Blau N, Kierat L, Scgaffner A, Schoedon G. Effect of activating and deactivating cytkines on the functionally linked tetrahydrobiopterin NO pathways in vascular smooth muscle cells. Immunol Lett 1996;54:25-29.
 
N. Blau Literature - 1995
204. Berger, C., J. Uehlinger, D. Ghelfi, N. Blau, and S. Fanconi. "Comparison of C-reactive protein and white blood cells count with differential in neonates at risk for septicemia." Eur J Pediatr 154 (1995): 138-144.
 
205. Blau, N., H. Ichinose, T. Nagatsu, C. W. Heizmann, F. Zacchello, and A. B. Burlina. "A missense mutation in a patient with guanosine triphosposp cyclohydrolase I deficiency missed in the newborn screening program." J Pediatr 126, 3 (1995): 401-405.
 
206. Hele T, Blau N, Heidemann P. Tetrahydrobiopterin-abhängige Hyperphenylalaninämie durch 6-Pyruvoyl-Tetrahydropterinsynthase-Mangel: progressive paroxysmale Dystonie mit tageszeitlicher Schwankung bei unzureichender Therapie. In: Gross-Selbeck G, ed. Aktuelle Neuropädiatrie 1995. Wehr/Baden: Ciba-Geigy Verlag, 1996: 262-267.
 
207. Ichinose, H., N. Blau, R. Matalon, and T. Nagatsu. "Genomic organization of mouse and human GTP cyclohydrolase I genes and mutations found in human gene." Pteridines 6 (1995): 104-107.
 
208. Ichinose, H., T. Ohye, Y. Matsuda, T. Hori, N. Blau, A. Burlina, B. Rouse, R. Matalon, K. Fujita, and T. Nagatsu. "Characterization of mouse and human GTP cyclohydrolase I genes - Mutations in patients with GTP cyclohydrolase I deficiency." J Biol Chem 270, 17 (1995): 10062-10071.
 
209. Leumann, E., B. Hoppe, Th. Neuhaus, and N. Blau. "Efficacy of oral citrate administration in primary hyperoxaluria." Nephrol Dial Transplant 10, Suppl. 8 (1995): 14-16.
 
210. Oppliger, T., B. Thöny, H. Nar, D. Bürgisser, R. Huber, C. W. Heizmann, and N. Blau. "Structural and functional consequences of mutations in 6-pyruvoyltetrahydropterin synthase causing hyperphenylalaninemia in humans - Phosphorylation is a requirement for in vivo activity." J Biol Chem 270, 49 (1995): 29498-29506.
 
211. Oppliger, T., B. Thöny, W. Leimbacher, S. Scheibenreiter, N. J. Brandt, C. W. Heizmann, and N. Blau. "Mutation analysis in patients with 6-pyruvoyl-tetrahydropterin synthase deficiency." Pteridines 6 (1995): 141-143.
 
212. Plüss, Ch., D. Kunz, U. Redweik, N. Blau, and J. Pfeilschifter. "Co-ordinate expression of GTP cyclohydrolase I and inducible nitric oxide synthase in rat mesangial cells." Pteridines 6 (1995): 129-131.
 
213. Schuler, A., N. Blau, and A. Ponzone. "Monoamine oxidase inhibitors in tetrahydrobiopterin deficiency." European Journal of Pediatrics 154, 12 (1995): 997.
 
214. Spada, M., A. Schuler, N. Blau, S. Ferraris, C. Lanza, and A. Ponzone. "Deprenyl in 6-pyruvoyl tetrahydropterin synthase deficiency." Pteridines 5 (1995): 144-146.
 
215. Thöny, B., F. Neuheiser, N. Blau, and C. W. Heizmann. "Characterization of the human PCBD gene encoding the bifunctional protein pterin-4a-carbinolamine dehydratase/dimerization cofactor for the transcription factor HNF-1a." Biochem Biophys Res Commun 210 (1995): 966-973.
 
N. Blau Literature - 1994
216. Baric, I., N. Barisic, N. Blau, and D. Mardesic. "Homocystinuria: case reports with a note on hyperhomocysteinemia as a risk factor for the early onset of vascular disease." Lijecnicki Vjesnik 116 (1994): 188-191.
 
217. Blau, N. "Selektives Screening auf angeborene Stoffwechselerkrankungen: Differentialdiagnose der Hyperphenylalaninemien." Labolife 5 (1994): 17-21.
 
218. Blau, N., L. Kierat, A. Matasovic, W. Leimbacher, C. W. Heizmann, O. Guardamagna, and A. Ponzone. "Antenatal diagnosis of tetrahydrobiopterin deficiency by quantification of pterins in amniotic fluid and enzyme activity in fetal and extrafetal tissue." Clin. Chim. Acta. 226 (1994): 159-169.
 
219. Bürgisser, D. M., B. Thöny, U. Redweik, P. Hunziker, C. W. Heizmann, and N. Blau. "Expression and characterization of recombinant human and rat liver 6-pyruvoyl tetrahydropterin synthase - Modified cysteine residues inhibit the enzyme activity." Eur J Biochem 219 (1994): 497-502.
 
220. Burgisser, D. M., B. Thony, U. Redweik, P. Hunziker, C. W. Heizmann, and N. Blau. "Expression and characterization of recombinant human and rat liver 6-pyruvoyl tetrahydropterin synthase. Modified cysteine residues inhibit the enzyme activity." Eur J Biochem 219, 1-2 (1994): 497-502.
 
221. Curtius, H. Ch., W. Endres, and N. Blau. "Effect of high-protein meal plus aspartame ingestion on plasma phenylalanine concentrations in obligate heterozygotes for phenylketonuria." Metabolism 43 (1994): 413-416.
 
222. Guldberg, P., F. Henriksen K, B. Thöny, N. Blau, and F. G¸ttler. "Molecular heterogeneity of nonphenylketonuria hyperphenylalaninemia in 25 Danish patients." Genomics 21 (1994): 453-455.
 
223. Jardim, L. B., R. Giugliani, J. C. Coelho, C. S. Dutra, and N. Blau. "Possible high frequency of tetrahydrobiopterin deficiency in south Brazil." J. Inher. Metab. Dis. 17 (1994): 223-229.
 
224. Niederwieser, A., N. Blau, M. Wang, P. Joller, M. Atares, and J. Cardesa-Garcia. "GTP cyclohydrolase I deficiency, a new enzyme defect causing hyperphenylalaninemia with neopterin, biopterin, dopamine, and serotonin deficiencies and muscular hypotonia." Eur J Pediatr 141, 4 (1984): 208-14.
 
225. Ponzone, A., M. Spada, B. Ferrero G, S. Ferraris, O. Guardamagna, A. Burlina, and N. Blau. "Experience with the combined phenylalanine-tetrahydrobiopterin loading test in hyperphenylalaninemia." In New Horizons in Neonatal Screening, edited by J. P. Farriaux and J. L. Dhondt, 115-118. Amsterdam: Elsevier, 1994.
 
226. Ponzone, A., S. Ferraris, M. Spada, N. Blau, S. Piovan, and A. B. Burlina. "Combined phenylalanine-tetrahydrobiopterin loading test in GTP cyclohydrolase I deficiency." Eur. J. Pediatr. 153 (1994): 616.
 
227. Schaffner, A., N. Blau, M. Schneemann, J. Steurer, C. J. S. Edgell, and G. Schoedon. "Tetrahydrobiopterin as another EDRF in man." Biochem Biophys Res Commun 205 (1994): 516-523.
 
228. Schoedon, G., N. Blau, M. Schneemann, G. Flury, and A. Schaffner. "Nitric oxide production depends on preceding tetrahydrobiopterin synthesis by endothelial cells - Selective suppression of induced nitric oxide production by sepiapterin reductase inhibitors." Biochem. Biophys. Res. Commun. 199 (1994): 504-510.
 
229. Thöny, B., W. Leimbacher, N. Blau, A. Harvie, and C. W. Heizmann. "Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism - molecular characterization of mutations in 6-pyruvoyl- tetrahydropterin synthase." Am J Hum Genet 54 (1994): 782-792.
 
230. Walter, R., A. Schaffner, N. Blau, L. Kierat, and G. Schoedon. "Tetrahydrobiopterin is a secretory product of murine vascular endothelial cells." Biochem. Biophys. Res. Commun. 203 (1994): 1522-1526.
 
N. Blau Literature - 1993
231. Blau, N., and J. L. Dhondt. "Tetrahydrobiopterin deficiency and an international database of patients." In Chemistry and Biology of Pteridines and Folates, edited by J E Ayling, M. G. Nair and C. M. Baugh, 255-262. New York: Plenum Press, 1993.
 
232. Blau, N., B. Thöny, C. W. Heizmann, and J. L. Dhondt. "Tetrahydrobiopterin deficiency: From phenotype to genotype." Pteridines 4 (1993): 1-10.
 
233. Coskun, T., I. Özalp, A. Tokatli, N. Blau, and A. Niederwieser. "Hyperphenylalaninemia due to tetrahydrobiopterin deficiency. A report of 16 cases." J Inherit Met Dis 16 (1993): 605-607.
 
234. Curtius, H. C., S. Ghisla, H. Hasegawa, N. Blau, and I. Rebrin. "Progress in the study of biosynthesis and role of 7-substituted pterins: function of pterin-4a-carbinolamine dehydratase." Adv Exp Med Biol 338 (1993): 107-10.
 
235. De Almeida, I. T., P. P. Leandro, R. Portel, A. Cabral, F. Eusebio, T. Tasso, A. Matasovic, and N. Blau. "Tetrahydrobiopterin deficiency in Portugal: results of the screening for hyperphenylalaninemia." In Chemistry and Biology of Pteridines and Folates, edited by J E Ayling, M. G. Nair and C. M. Baugh, 263-266. New York: Plenum Press, 1993.
 
236. Frank, G., U. Redweik, M. Rümbeli, G. Schoedon, and N. Blau. "Cyanogen bromide cleavage of proteins on blots and subsequent separation of the fragments by polyacrilamide gel elektrophoresis directly from those blots." In Methods in Protein Sequence Analysis, edited by K. Imahori and F. Sakiyama, 79-85. New York: Plenum Press, 1993.
 
237. Guzman, J., G. Schoedon, and N. Blau. "In vitro immunization with antigen directly blotted from SDS- polyacrylamide gels to polyvinylidene difluoride membranes." J. Immunol. Methods. 158 (1993): 37-47.
 
238. Hauer, C. R., I. Rebrin, B. Thony, F. Neuheiser, H. C. Curtius, P. Hunziker, N. Blau, S. Ghisla, and C. W. Heizmann. "Phenylalanine hydroxylase-stimulating protein/pterin-4 alpha-carbinolamine dehydratase from rat and human liver. Purification, characterization, and complete amino acid sequence." J Biol Chem 268, 7 (1993): 4828-31.
 
239. Hoppe, B., A. Hesse, T. Neuhaus, S. Fanconi, I.Forster, N. Blau, and E. Leumann. "Urinary saturation and nephrocalcinosis in preterm infants: effect of parenteral nutrition." Arch Dis Child 69 (1993): 229-303.
 
240. Ponzone, A., I. Dianzani, M. Spada, L. de-Sanctis, O. Guardamagna, E. Viora, R. Ponzone, L. Kierat, W. Leimbacher, A. Matasovic, and N. Blau. "Prenatal diagnosis in primary hyperphenylalaninemia." Dev. Brian. Dysfunct. 6 (1993): 158-167.
 
241. Ponzone, A., O. Guardamagna, M. Spada, R. Ponzone, M. Sartore, L. Kierat, C. W. Heizmann, and N. Blau. "Hyperphenylalaninemia and pterin metabolism in serum and erythrocytes." Clin. Chim. Acta. 216 (1993): 63-71.
 
242. Ponzone, A., O. Guardamagna, M. Spada, S. Ferraris, R. Ponzone, L. Kierat, and N. Blau. "Differential diagnosis of hyperphenylalaninemia by a combined phenylalanine-tetrahydrobiopterin loading test." Eur J Pediatr 152 (1993): 655-661.
 
243. Schneemann, M., G. Schoedon, S. Hofer, N. Blau, L. Guerrero, and A. Schaffner. "Nitric oxide synthase is not a constituent of the antimicrobial armature of human mononuclear phagocytes." J. Infect. Dis. 167 (1993): 1358-1363.
 
244. Schoedon, G., M. Schneemann, N. Blau, C. J. S. Edgell, and A. Schaffner. "Modulation of human endothelial cell tetrahydrobiopterin synthesis by activating and deactivating cytokines - New perspectives on endothelium-derived relaxing factor." Biochem. Biophys. Res. Commun. 196 (1993): 1343-1348.
 
245. Schoedon, G., M. Schneemann, S. Hofer, L. Guerrero, N. Blau, and A. Schaffner. "Regulation of the L-arginine and tetrahydrobiopterin dependent biosynthesis of nitric oxide in murine macrophages." Eur J Biochem 213 (1993): 883-839.
 
246. Thöny, B., W. Leimbacher, N. Blau, C. W. Heitzmann, and D. Bürgisser. "Human liver 6-pyruvoyl-tetrahydropterin synthase: Expression of the cDNA, purification and preliminary characterisation of the recombinant protein." In Chemistry and Biology of Pteridines and Folates, edited by J E Ayling, M. G. Nair and C. M. Baugh, 187-190. New York: Plenum Press, 1993.
 
N. Blau Literature - 1992
247. Adler, C., S. Ghisla, I. Rebrin, C. W. Heizmann, N. Blau, and H. Ch. Curtius. "Suspected pterin-4a-carbinolamine dehydratase deficiency: hyperphenylalaninaemia due to inhibition of phenylalanine hydroxylase by tetrahydro-7-biopterin." J. Inherit. Metab. Dis. 15 (1992): 405-408.
 
248. Adler, C., S. Ghisla, I. Rebrin, J. Haavik, C. W. Heizmann, N. Blau, T. Kuster, and H. C. Curtius. "7-substituted pterins in humans with suspected pterin-4a-carbinolamine dehydratase deficiency. Mechanism of formation via non-enzymatic transformation from 6-substituted pterins." Eur J Biochem 208, 1 (1992): 139-44.
 
249. Blaskovics, M., T. A. Giudici, and N. Blau. "Primapterinuria: a clinical update." Pteridines 3 (1992): 33-34.
 
250. Blau, N. "Diagnosis of tetrahydrobiopterin deficiency." In Pteridines and Related Biogenic Amines and Folates 1992, edited by N. Blau, H. Ch. Curtius, R. Levine and J. Yim, 109-115. Seoul: Hanrim Publishing Co., 1992.
 
251. Blau, N. "Guidelines for the screening for hyperphenylalaninemia due to tetrahydrobiopterin deficiency." Cro. Med. J. 33 (1992): 17-22.
 
252. 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.
 
253. Blau, N., C. W. Heizmann, W. Sperl, G. C. Korenke, G. F. Hoffmann, P. M. Smooker, and R. G. H. Cotton. "Atypical (mild) forms of dihydropteridine reductase deficiency - Neurochemical evaluation and mutation detection." Pediatr. Res. 32 (1992): 726-730.
 
254. Blau, N., H.Ch. Curtius, R.A. Levine, and J. Yim. Pteridines and Related Biogenic Amines and Folates 1992. Seoul: Hanrim Publishing Co., 1992.
 
255. Blau, N., L. Kierat, C. W. Heizmann, W. Endres, T. Giudici, and M. Wang. "Screening for tetrahydrobiopterin deficiency in newborns using dried urine on filter paper." J. Inherit. Metab. Dis. 15 (1992): 402-404.
 
256. Blau, N., L. Kierat, H. Ch. Curtius, M. Blaskovics, and T. Giudici. "Hyperphenylalaninaemia presumably due to carbinolamine dehydratase deficiency: loading tests with pterin derivatives." J. Inherit. Metab. Dis. 15 (1992): 409-412.
 
257. Curtius, H. C., C. Adler, C. Heizmann, N. Blau, I. Rebrin, and S. Ghisla. "7-substituted pterins: formation and occurrence." J Nutr Sci Vitaminol (Tokyo) Spec No (1992): 501-4.
 
258. Guardamagna, O., M. Spada, A. Ponzone, E. Viora, R. Ponzone, F. Binkert, A. Matasovic, L. Kierat, and N. Blau. "Prenatal diagnosis of dihydropteridine reductase deficiency in a twin pregnancy." Pteridines 3 (1992): 19-21.
 
259. Guzman, J., and N. Blau. "6-Pyruvoyl tetrahydropterin synthase in human tissues and cell lines." Pteridines 3 (1992): 43-45.
 
260. Guzman, J., G. Schoedon, and N. Blau. "Production of monoclonal antibodies against human 6-pyruvoyl tetrahydropterin synthase and immunocytochemical localization of the enzyme." Biochem. Biophys. Res. Commun. 182 (1992): 810-816.
 
261. Guzman, J., U. Redweik, G. Schoedon, P. Hunziker, O. D. Wiestler, C. W. Heizmann, and N. Blau. "Purification and characterization of 6-pyruvoyl tetrahydropterin synthase from human pituitary gland." Enzyme 46, 6 (1992): 287-98.
 
262. Hauer, C. R., W. Leimbacher, P. Hunziker, F. Neuheiser, N. Blau, and C. W. Heizmann. "6-pyruvoyl tetrahydropterin synthase from salmon liver: amino acid sequence analysis by tandem mass spectrometry." Biochem. Biophys. Res. Commun. 182 (1992): 953-959.
 
263. Ning, C., S.R. Liu, H. Wei, S. Wang, D. Shu, N. Blau, and M.T .Wang. "The screening diagnosis of tetrahydrobiopterin deficient phenylketonuria." J Tongji Med Univ 12 (1992): 216-218.
 
264. Schoedon, G., U. Redweik, G. Frank, R. G. Cotton, and N. Blau. "Allosteric characteristics of GTP cyclohydrolase I from Escherichia coli." Eur. J. Biochem. 210 (1992): 561-568.
 
265. Spada, M., T. Parrella, R. Ponzone, O. Guardamagna, A. Ponzone, and N. Blau. "Monitoring treatment in tetrahydrobiopterin deficiency." Pteridines 3 (1992): 13-15.
 
N. Blau Literature - 1991
266. Al-Aqeel, A., P. T. Ozand, G. Gascon, M. Nester, M. al Nasser, J. Brismar, N. Blau, H. Hughes, S. B. Subramanyan, and C. T. Reynolds. "Biopterin-dependent hyperphenylalaninemia due to deficiency of 6- pyruvoyl tetrahydropterin synthase." Neurology 41 (1991): 730-737.
 
267. Blau, N. "Hiperfenilalanininemili hastalarin tetrahidrobiopterin eksikligi yönünden taranmasi." Katki Pediatri Dergisi 12 (1991): 13-19.
 
268. Blau, N., H.Ch. Curtius, R.A. Levine, and R.G.H Cotton. Pterins and Biogenic Amines in Neurobiology, Pediatrics, and Immunology. Grosse Point, MI: Lakeshore Publishing Co., 1991.
 
269. Cerone, R., M.C. Schiaffino, U. Caruso, L. Martino, N. Blau, and C. Romano "Long-term neurotransmitter therapy in DHPR deficiency." In Pterins and Biogenic Amines in Neurology, Pediatrics and Immunology, edited by N. Blau, H. Ch. Curtius, R. A. Levine and Cotton R.G.H., 179-182. Grosse Pointe: Lakeshore Publishing Co., 1991.
 
270. Curtius, H. Ch., N. Blau, and T. Kuster. "Pterins." In Techniques in Diagnostic Human Biochemical Genetics, edited by F. A. Hommes, 377-396. New York: Wiley-Liss, 1991.
 
271. Giudici, T. A., M. Blaskovics, B. Lim, R. Gambetta, H. Ch. Curtius, and N. Blau. "Excretion of 7-substituted pterins by a hyperphenylalaninemic variant (primapterinuria). Administration of tetrahydrobiopterin and sepiapterin." In Pterins and Biogenic Amines in Neurology, Pediatrics and Immunology, edited by N. Blau, H. Ch. Curtius, R. A. Levine and Cotton R.G.H., 149-164. Grosse Pointe: Lakeshore Publishing Co., 1991.
 
272. Heizmann, C. W., W. Leimbacher, L. Kierat, and N. Blau. "Measurement of enzymes involved in the biosynthesis of tetrahydrobiopterin, pterins and neurotransmitter metabolites in various regions of the human brain." In Pterins and Biogenic Amines in Neurology, Pediatrics and Immunology, edited by N. Blau, H. Ch. Curtius, R. A. Levine and Cotton R.G.H., 95-99. Grosse Pointe: Lakeshore Publishing Co., 1991.
 
273. Leppert, D., U. Schanz, J. Burger, J. Gmur, N. Blau, and W. Waespe. "Long-term plasma exchange in a case of Refsum's disease." Eur.Arch.Psych.Clin.Neurosci. 241 (1991): 82-84.
 
274. Park, Y. S., C. W. Heizmann, B. Wermuth, R. A. Levine, P. Steinerstauch, J. Guzman, and N. Blau. "Human carbonyl and aldose reductases: new catalytic functions in tetrahydrobiopterin biosynthesis." Biochem Biophys Res Commun 175, 3 (1991): 738-44.
 
275. Schulpis, K. H., A. Covanis, M. Loumakou, N. Frantzis, O. Papandreou, A. Divolli, S. Missiou Tsagaraki, L. Kierat, and N. Blau. "A case of 6-pyruvoyl-tetrahydropterin synthase deficiency after screening 1,500,000 newborns in Greece." J. Inherit. Metab. Dis. 14 (1991): 845-846.
 
N. Blau Literature - 1990
276. Blau, N., and H. Ch. Curtius. "Inborn errors in tetrahydrobiopterin metabolism." In Chemistry and Biology of Pteridines 1989, edited by H. Ch. Curtius, S. Ghisla and N. Blau, 383-388. Berlin: Walter de Gruyter, 1990.
 
277. Blau, N., W. Endres, O. Guardamagna, G. B. Ferrero, S. Ferraris, and A. Ponzone. "Unusual case of atypical PKU: peripheral or central form of PPH4S deficiency." In Chemistry and Biology of Pteridines 1989, edited by H. Ch. Curtius, S. Ghisla and N. Blau, 418-421. Berlin: Walter de Gruyter, 1990.
 
278. Coskun, T., I. Özalp, N. Blau, and A. Niederwieser. "Tetrahydrobiopterin dependent hyperphenylalaninemia." Cocuk Sagligi ve Hastaliklari Dergisi 33 (1990): 3-13.
 
279. Curtius, H. C., A. Matasovic, G. Schoedon, T. Kuster, P. Guibaud, T. Giudici, and N. Blau. "7-Substituted pterins. A new class of mammalian pteridines." J Biol Chem 265, 7 (1990): 3923-30.
 
280. Curtius, H.Ch., N. Blau, and S. Ghisla. Chemistry and Biology of Pteridines 1989: Pteridines and Folic Acid Derivatives. Berlin, New York: Walter de Gruyter, 1990.
 
281. Ponzone, A., G. B. Ferrero, O. Guardamagna, S. Ferraris, H. Ch. Curtius, and N. Blau. "Screening and treatment of tetrahydrobiopterin deficiency." In Chemistry and Biology of Pteridines 1989, edited by H. Ch. Curtius, S. Ghisla and N. Blau, 393-401. Berlin: Walter de Gruyter, 1990.
 
282. Ponzone, A., N. Blau, O. Guardamagna, G. B. Ferrero, I. Dianzani, and W. Endres. "Progression of 6-pyruvoyl-tetrahydropterin synthase deficiency from a peripheral into a central phenotype." J Inherit Metab Dis 13 (1990): 298-300.
 
283. Ponzone, A., O. Guardamagna, S. Ferraris, G. B. Ferrero, N. Blau, H. Ch. Curtius, L. Kierat, and R. G. H. Cotton. "Heterogeneity of tetrahydrobiopterin deficiency: combined phenylalanine-tetrahydrobiopterin loading test." In Chemistry and Biology of Pteridines 1989, edited by H. Ch. Curtius, S. Ghisla and N. Blau, 414-417. Berlin: Walter de Gruyter, 1990.
 
284. Romano, C., U. Caruso, R. Cerone, L. Maritano, G. Zignego, and N. Blau. "Systematic investigation for biopterin defects in hyperphenylalaninemic patients." In Chemistry and Biology of Pteridines 1989, edited by H. Ch. Curtius, S. Ghisla and N. Blau, 434-437. Berlin: Walter de Gruyter, 1990.
 
N. Blau Literature - 1989
285. Blau, N., A. C. Curtius, L. Kierat, D. Leupold, and E. Kohne. "Hyperphenylalaninemia caused by dihydropteridine reductase deficiency in children receiving chemotherapy for acute lymphoblastic leukemia [letter]." J Pediatr 115, 4 (1989): 661-3.
 
286. Blau, N., A. Niederwieser, H. C. Curtius, L. Kierat, W. Leimbacher, A. Matasovic, F. Binkert, H. Lehmann, D. Leupold, O. Guardamagna, A. Ponzone, H. Schmidt, T. Coskun, I. Özalp, R. Giugliani, G. Biasucci, and M. Giovaninni. "Prenatal diagnosis of atypical phenylketonuria." J Inherit Metab Dis 12 Suppl 2 (1989): 295-8.
 
287. Blau, N., A. Niederwieser, H. Ch. Curtius, L. Kierat, W. Leimbacher, A. Matasovic, F. Binkert, H. Lehmann, D. Leupold, O. Guardamagna, and a l et. "Prenatal diagnosis of atypical phenylketonuria." J. Inherit. Metab. Dis. 12 (1989): 295-298.
 
288. Blau, N., A. Niederwieser, U. Redweik, G. Schoedon, and W. Leimbacher. "Immobilization of GTP cyclohydrolase I and 6-pyruvoyl tetrahydropterin synthase to different affinity supports." In Pterins and Biogenic Amines in Neuropsychiatry, Pediatrics and Immunology, edited by R. A. Levine, S. Milstien, D.M. Kuhn and H. Ch. Curtius, 97-105. Grosse Pointe: Lakeshore Publishing Co., 1989.
 
289. Blau, N., and H. Ch. Curtius. "Cofactor defects in atypical phenylketonuria." , edited by B. J. Schmidt, A. J. Diamenti and N. S. Loghin-Grosso, 95-104. Amsterdam: Excerpte Medica, 1989.
 
290. Blau, N., G. Schoedon, and H. C. Curtius. "Biosynthesis and significance of neopterin in the immune system." Eur J Cancer Clin Oncol 25, 4 (1989): 603-5.
 
291. Blau, N., H. Ch. Curtius, T. Kuster, A. Matasovic, G. Schoedon, J. L. Dhondt, P. Guibaud, T. Giudici, and M. Blaskovics. "Primapterinuria: a new variant of atypical phenylketonuria." J. Inherit. Metab. Dis. 12 (1989): 335-338.
 
292. Blau, N., M. Berger, Ch. Huber, L. Kierat, and H.Ch Curtius. "Effect of 8-aminoguanosine and diaminooxopyrimidine on the production of 3-hydroxyanthranilic acid and neopterin in macrophages." In Pterins and Biogenic Amines in Neuropsychiatry, Pediatrics and Immunology, edited by R. A. Levine, S. Milstien, D.M. Kuhn and H. Ch. Curtius, 415-424. Grosse Pointe: Lakeshore Publishing Co., 1989.
 
293. Dietrich, D., Ch. Schlatter, N. Blau, and M. Fischer. "Aluminum and acid rain: mitigating effects of NaCl on aluminum toxicity to brown trout (Salmo trutta fario) in acid water." Toxicol.Environ.Chem, 19 (1989): 17-23.
 
294. Endres, W., N. Blau, and H. Ch. Curtius. "Differential diagnosis and treatment of tetrahydrobiopterin deficient hyperphenylalaninemia." In Pterins and Biogenic Amines in Neuropsychiatry, Pediatrics and Immunology, edited by R. A. Levine, S. Milstien, D.M. Kuhn and H. Ch. Curtius, 317-324. Grosse Pointe: Lakeshore Publishing Co., 1989.
 
295. Endres, W., N. Blau, and H. Ch. Curtius. "Newborn screening and treatment of hyperphenylalaninemia due to tetrahydrobiopterin deficiency." In Current Trends in Infant Screening, edited by B. J. Schmidt, A. J. Diamenti and N. S. Loghin-Grosso, 77-82. Amsterdam: Excerpte Medica, 1989.
 
296. Kuster, T., A. Matasovic, N. Blau, J. L. Dhondt, P. Guibaud, and H. Ch. Curtius. "GC-MS identification of 7-biopterin, 6-oxo-7-biopterin and 7- neopterin in urine." In Pterins and Biogenic Amines in Neuropsychiatry, Pediatrics and Immunology, edited by R. A. Levine, S. Milstien, D.M. Kuhn and H. Ch. Curtius, 83-92. Grosse Pointe: Lakeshore Publishing Co., 1989.
 
297. Matalon, R., K. Michals, N. Blau, and B. Rouse. "Hyperphenylalaninemia due to inherited deficiencies of tetrahydrobiopterin." Adv. Pediatr. 36 (1989): 67-89.
 
298. Ponzone, A., S. Biasetti, S. Ferraris, O. Guardamagna, H. Ch. Curtius, L. Kierat, and N. Blau. "Differential entrance of tetrahydrobiopterin into the brain of patients with 6-pyruvoyl tetrahydropterin synthase deficiency." In Pterins and Biogenic Amines in Neuropsychiatry, Pediatrics and Immunology, edited by R. A. Levine, S. Milstien, D.M. Kuhn and H. Ch. Curtius, 325-334. Grosse Pointe: Lakeshore Publishing Co., 1989.
 
N. Blau Literature - 1988
299. Blau, N. "Inborn errors of pterin metabolism." Ann. Rev. Nutr. 9 (1988): 185-209.
 
300. Blau, N., A. Niederwieser, and D. Shmerling. "Peptiduria presumably caused by aminopeptidase-P deficiency, a new inborn error of metabolism." J. Inher. Metab. Dis. 11, Suppl. 2 (1988): 43-45.
 
301. Blau, N., A. Niederwieser, H. Ch. Curtius, W. Leimbacher, L. Kierat, A. Matasovic, and W. Staudenmann. "Prenatal diagnosis of tetrahydrobiopterin deficiency." In Unconjugated Pterins and Related Biogenic Amines, edited by H. Ch. Curtius, N. Blau and R. A. Levine, 237-246. Berlin, New York: de Gruyter, 1987.
 
302. Blau, N., and H. C. Curtius. "Neopterin and AIDS (letter)." Clin Chem 34, 10 (1988): 2184-5.
 
303. Blau, N., J. L. Dhondt, P. Guibaud, T. Kuster, and H. Ch. Curtius. "New variant of hyperphenylalaninaemia with excretion of 7- substituted pterins (letter)." Eur. J. Pediatr. 148 (1988): 176.
 
304. Curtius, H. C., T. Kuster, A. Matasovic, N. Blau, and J. L. Dhondt. "Primapterin, anapterin, and 6-oxo-primapterin, three new 7-substituted pterins identified in a patient with hyperphenylalaninemia." Biochem Biophys Res Commun 153, 2 (1988): 715-21.
 
N. Blau Literature - 1987
305. Blau, N., M. Zachmann, B. Kempken, W. Staudenmann, E. Möhr, and H.Ch. Curtius. "Identification of new steroids in patients with 17-alpha-hydroxylase deficiency by capillary gas chromatography/mass spectrometry." Biomed.Environ.Mass Spectr. 14 (1987): 633-637.
 
306. Blau, N., P. Steinerstauch, U. Redweik, K. Pfister, G. Schoedon, L. Kierat, and A. Niederwieser. "Dihydromonapterin triphosp : occurrence, analysis, and effect on tetrahydrobiopterin biosynthesis in vivo and in vitro." In Unconjugated Pterins and Related Biogenic Amines, edited by H. Ch. Curtius, N. Blau and R. A. Levine, 105-115. Berlin, New York: de Gruyter, 1987.
 
307. Curtius, H.Ch., N. Blau, and R.A. Levine. Unconjugated Pterins and Related Biogenic Amines. Berlin, New York: Walter de Gruyter, 1987.
 
308. Endres, W., H. Ibel, L. Kierat, N. Blau, and H. C. Curtius. "Tetrahydrobiopterin and "non-responsive" dihydropteridine reductase deficiency (letter)." Lancet 2, 8552 (1987): 223.
 
309. Ghisla, S., P. Steinerstauch, T. Hasler, N. Blau, and H. Ch. Curtius. "1H-NMR studies with tetrahydrobiopterins, evidence for the structure of 6-pyruvoyltetrahydropterin, an intermediate in the biosynthesis of tetrahydrobiopterin." In Unconjugated Pterins and Related Biogenic Amines, edited by H. Ch. Curtius and et al., 67-79. Berlin: Walter de Gruyter, 1987.
 
310. 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.
 
N. Blau Literature - 1986
311. Blau, N., and A. Niederwieser. "The application of 8-aminoguanosine triphosp , a new inhibitor of GTP cyclohydrolase I, to the purification of the enzyme from human liver." Biochim Biophys Acta 880, 1 (1986): 26-31.
 
312. Blau, N., D. Heintel, A. Niederwieser, W. Staudenmann, and H.Ch. Curtius. "In vitro studies of tetrahydrobiopterin biosynthesis using deuterated pyridine nucleotides." In Advances in Mass Specrometry, edited by F.J. Todd, 1271-1272. London: John Wiley & Sons. Ltd., 1986.
 
313. Niederwieser, A., P. Joller, R. Seger, N. Blau, A. Prader, J. D. Bettex, R. Luthy, B. Hirschel, J. Schaedelin, and U. Vetter. "Neopterin in AIDS, other immunodeficiencies, and bacterial and viral infections." Klin. Wochenschr. 64 (1986): 333-337.
 
N. Blau Literature - 1985
314. Blau, N., and A. Niederwieser. "GTP cyclohydrolases: a review." J Clin Chem Clin Biochem 23, 4 (1985): 169-76.
 
315. Blau, N., and H.Ch. Curtius. "Serum bile acids determination with an RA 1000 analyzer (letter)." Clin.Chem. 31 (1985): 1409.
 
316. Blau, N., P. Joller, M. Atares, J. Cardesa-Garcia, and A. Niederwieser. "Increase of GTP cyclohydrolase I activity in mononuclear blood cells by stimulation: detection of heterozygotes of GTP cyclohydrolase I deficiency." Clin Chim Acta 148, 1 (1985): 47-52.
 
317. Heintel, D., W. Leimbacher, U. Redweik, N. Blau, A. Niederwieser, and H. Ch. Curtius. "Tetrahydrobiopterin biosynthesis in man." In Biochemical and Clinical Aspects of Pteridiens, edited by H. Wachter, H. Ch. Curtius and W. Pfleidere, 151-158. Berlin, 1985.
 
N. Blau Literature - 1984
318. Blau, N. "Zwei neue angeborene Stoffwechseldefekte: Gly-Pro-Hyp-Gly-Aminopeptidase- und GTP-Cyclohydrolase-I-Mangel." Ph.D., Zürich, 1984.
 
319. Blau, N., and A. Niederwieser. "GTP cyclohydrolases: mini-review." In Biochemical and Clinical Aspects of Pteridines, edited by W Pfleiderer, H. Wachter and H. Ch. Curtius, 77-92. Berlin: Walter de Gruyter, 1984.
 
320. Fussler-Pfohl, Ch., A. Weber, J.F. O'Hanlon, R. Gierer, N. Blau, and E. Grandjean. "Tension musculaire de la nuque lors de travaux repetitif." Travail Humain 47 (1984): 125-142.
 
N. Blau Literature - 1983
321. Blau, N., and A. Niederwieser. "Guanosine triphosposphate cyclohydrolase I assay in human and rat liver using HPLC of neopterin phosp s and guanine nucleotides." Anal.Biochem., 128 (1983): 446-452.
 
322. Joller, P. W., N. Blau, M. Atares, and A. Niederwieser. "Guanosine-triphosposphate cyclohydrolase deficiency: analysis of the influence on immune parameters in a girl." In Biochemical and Clinical Aspects of Pteridines, edited by H. Ch. Curtius, W. Pfleidere and H. Wachter, 167-176. Berlin: Walter de Gruyter, 1983.
 
N. Blau Literature - 1982
323. Blau, N., R. Bosshard, U. Redweik, and A. Niederwieser. "HPLC of neopterin phospates." In Biochemical and Clinical Aspects of Pteridines, edited by H. Wachter, H. Ch. Curtius and W. Pfleiderer, 103-116. Berlin: Walter de Gruyter, 1982.
 
N. Blau Literature - 1981
324. Curtius, Ch.H., A. Niederwieser, Th. Kuster, and N. Blau. "Gas chromatography-mass spectrometry in the study of inborn errors of metabolism including pterins, peptides and steroids." Proc.Jap.Soc.Med.Mass.Spectrometry 6 (1981): 45-59.
 
N. Blau Literature - 1979
325. Zilic, Z., N. Blau, and M. Knob. "Simple rapid method for the separation and quantitative analysis of carbohydrates in biological fluids." J.Chromatogr. 164 (1979): 91-94.
 
N. Blau Literature - 1977
326. Blau, N., and H. Rosenmund. "A new semiautomated fluorometric method for estimation of small amounts of L-Dopa in human urine." Clin.Chim.Acta 75 (1977): 213-220.
 
 


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