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Results:
1-19
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Results: 19
Authors:
Blau, N
Bonafe, L
Thony, B
Citation: N. Blau et al., Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: Diagnosis and genetics of DOPA-responsive dystonia and sepiapterin reductase deficiency, MOL GEN MET, 74(1-2), 2001, pp. 172-185
Authors:
Dudesek, A
Roschinger, W
Muntau, AC
Seidel, J
Leupold, D
Thony, B
Blau, N
Citation: A. Dudesek et al., Molecular analysis and long-term follow-up of patients with different forms of 6-pyruvoyl-tetrahydropterin synthase deficiency, EUR J PED, 160(5), 2001, pp. 267-276
Authors:
Schallreuter, KU
Moore, J
Wood, JM
Beazley, WD
Peters, EMJ
Marles, LK
Behrens-Williams, SC
Dummer, R
Blau, N
Thony, B
Citation: Ku. Schallreuter et al., Epidermal H2O2 accumulation alters tetrahydrobiopterin (6BH(4)) recycling in vitiligo: Identification of a general mechanism in regulation of all 6BH(4)-dependent processes?, J INVES DER, 116(1), 2001, pp. 167-174
Authors:
Bonafe, L
Thony, B
Leimbacher, W
Kierat, L
Blau, N
Citation: L. Bonafe et al., Diagnosis of dopa-responsive dystonia and other tetrahydrobiopterin disorders by the study of biopterin metabolism in fibroblasts, CLIN CHEM, 47(3), 2001, pp. 477-485
Authors:
Bonafe, L
Thony, B
Penzien, JM
Czarnecki, B
Blau, N
Citation: L. Bonafe et al., Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia, AM J HU GEN, 69(2), 2001, pp. 269-277
Authors:
Laufs, S
Kim, SH
Kim, S
Blau, N
Thony, B
Citation: S. Laufs et al., Reconstitution of a metabolic pathway with triple-cistronic IRES-containing retroviral vectors for correction of tetrahydrobiopterin deficiency, J GENE MED, 2(1), 2000, pp. 22-31
Authors:
Ayling, JE
Bailey, SW
Boerth, SR
Giugliani, R
Braegger, CP
Thony, B
Blau, N
Citation: Je. Ayling et al., Hyperphenylalaninemia and 7-pterin excretion associated with mutations in 4a-hydroxy-tetrahydrobiopterin dehydratase/DCoH: Analysis of enzyme activity in intestinal biopsies, MOL GEN MET, 70(3), 2000, pp. 179-188
Authors:
Blau, N
Scherer-Oppliger, T
Baumer, A
Riegel, M
Matasovic, A
Schinzel, A
Jaeken, J
Thony, B
Citation: N. Blau et al., Isolated central form of tetrahydrobiopterin deficiency associated with hemizygosity on chromosome 11q and a mutant allele of PTPS, HUM MUTAT, 16(1), 2000, pp. 54-60
Authors:
Thony, B
Auerbach, G
Blau, N
Citation: B. Thony et al., Tetrahydrobiopterin biosynthesis, regeneration and functions, BIOCHEM J, 347, 2000, pp. 1-16
Authors:
Depaepe, V
Cuvelier, L
Thony, B
Resibois, A
Citation: V. Depaepe et al., Pterin-4 alpha-carbinolamine dehydratase in rat brain I. Patterns of co-localization with tyrosine hydroxylase, MOL BRAIN R, 75(1), 2000, pp. 76-88
Authors:
Scherer-Oppliger, T
Matasovic, A
Laufs, S
Levy, HL
Quackenbush, EJ
Blau, N
Thony, B
Citation: T. Scherer-oppliger et al., Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemia (vol 13, pg 286, 1998), HUM MUTAT, 14(1), 1999, pp. 86-86
Authors:
Scherer-Oppliger, T
Matasovic, A
Laufs, S
Levy, HL
Quackenbush, EJ
Blau, N
Thony, B
Citation: T. Scherer-oppliger et al., Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemia, HUM MUTAT, 13(4), 1999, pp. 286-289
Authors:
Resibois, A
Cuvelier, L
Svoboda, M
Heizmann, CW
Thony, B
Citation: A. Resibois et al., Immunohistochemical localisation of pterin-4 alpha-carbinolamine dehydratase in rat peripheral organs, HISTOCHEM C, 111(5), 1999, pp. 381-390
Authors:
Blau, N
Thony, B
Renneberg, A
Penzien, JM
Hyland, K
Hoffmann, GF
Citation: N. Blau et al., Variant of dihydropteridine reductase deficiency without hyperphenylalaninaemia: Effect of oral phenylalanine loading, J INH MET D, 22(3), 1999, pp. 216-220
Authors:
Han, JS
Park, JY
Lee, YS
Thony, B
Hwang, DS
Citation: Js. Han et al., PhoB-dependent transcriptional activation of the iciA gene during starvation for phosphate in Escherichia coli, MOL G GENET, 262(3), 1999, pp. 448-452
Authors:
Ploom, T
Thony, B
Yim, J
Lee, S
Nar, H
Leimbacher, W
Richardson, J
Huber, R
Auerbach, G
Citation: T. Ploom et al., Crystallographic and kinetic investigations on the mechanism of 6-pyruvoyltetrahydropterin synthase, J MOL BIOL, 286(3), 1999, pp. 851-860
Authors:
Scherer-Oppliger, T
Leimbacher, W
Blau, N
Thony, B
Citation: T. Scherer-oppliger et al., Serine 19 of human 6-pyruvoyltetrahydropterin synthase is phosphorylated by cGMP protein kinase II, J BIOL CHEM, 274(44), 1999, pp. 31341-31348
Authors:
Eskinazi, R
Thony, B
Svoboda, M
Robberecht, P
Dassesse, D
Heizmann, CW
Van Laethem, JL
Resibois, A
Citation: R. Eskinazi et al., Overexpression of pterin-4a-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 in human colon cancer, AM J PATH, 155(4), 1999, pp. 1105-1113
Authors:
Turri, MO
Ilg, EC
Thony, B
Blau, N
Citation: Mo. Turri et al., Structure, genomic localization and recombinant expression of the mouse 6-pyruvoyl-tetrahydropterin synthase gene, BIOL CHEM, 379(12), 1998, pp. 1441-1447
Risultati:
1-19
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