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Ramaekers, V T; Thöny, B; Sequeira, J M; Ansseau, M; Philippe, P; Boemer, F; Bours, V; Quadros, E V (2014). Folinic acid treatment for schizophrenia associated with folate receptor autoantibodies. Molecular Genetics and Metabolism, 113(4):307-314.

Dill, P; Wagner, M; Somerville, A; Thöny, B; Blau, N; Weber, P (2012). Child neurology: paroxysmal stiffening, upward gaze, and hypotonia: hallmarks of sepiapterin reductase deficiency. Neurology, 78(5):e29-32.

Zimmermann, M; Jacobs, P; Fingerhut, R; Torresani, T; Thöny, B; Blau, N; Baumgartner, M R; Rohrbach, M (2012). Positive effect of a simplified diet on blood phenylalanine control in different phenylketonuria variants, characterized by newborn BH4 loading test and PAH analysis. Molecular Genetics and Metabolism, 106(3):264-268.

Dill, P; Schneider, J; Weber, P; Trachsel, D; Tekin, M; Jakobs, C; Thöny, B; Blau, N (2011). Pyridoxal phosphate-responsive seizures in a patient with cerebral folate deficiency (CFD) and congenital deafness with labyrinthine aplasia, microtia and microdontia (LAMM). Molecular Genetics and Metabolism, 104(3):362-368.

Dobrowolski, S F; Heintz, C; Miller, T; Ellingson, C; Ellingson, C; Ozer, I; Gökçay, G; Baykal, T; Thöny, B; Demirkol, M; Blau, N (2011). Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population. Molecular Genetics and Metabolism, 102(2):116-121.

Adamsen, D; Meili, D; Blau, N; Thöny, B; Ramaekers, V (2011). Autism associated with low 5-hydroxyindolacetic acid in CSF and the heterozygous SLC6A4 gene Gly56Ala plus 5-HTTLPR L/L promoter variants. Molecular Genetics and Metabolism, 102(3):368-373.

Opladen, T; Abu Seda, B; Rassi, A; Thöny, B; Hoffmann, G F; Blau, N (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):819-826.

Franklin, T B; Linder, N; Russig, H; Thöny, B; Mansuy, I M (2011). Influence of early stress on social abilities and serotonergic functions across generations in mice. PLoS ONE, 6(7):e21842.

Brasil, S; Viecelli, H M; Meili, D; Rassi, A; Desviat, L R; Pérez, B; Ugarte, M; Thöny, B (2011). Pseudoexon exclusion by antisense therapy in 6-pyruvoyl-tetrahydropterin synthase deficiency. Human Mutation, 32(9):1019-1027.

Werner, E R; Blau, N; Thöny, B (2011). Tetrahydrobiopterin: biochemistry and pathophysiology. Biochemical Journal, 438(3):397-414.

Kostandyan, N; Britschgi, C; Matevosyan, A; Oganezova, A; Davtyan, A; Blau, N; Steinmann, B; Thöny, B (2011). The spectrum of phenylketonuria genotypes in the Armenian population: identification of three novel mutant PAH alleles. Molecular Genetics and Metabolism, 104(Suppl.):S93-S96.

Rebuffat, A; Harding, C O; Ding, Z; Thöny, B (2010). Comparison of adeno-associated virus pseudotype 1, 2, and 8 vectors administered by intramuscular injection in the treatment of murine phenylketonuria. Human Gene Therapy, 21(4):463-477.

Calvo, A C; Scherer, T; Pey, A L; Ying, M; Winge, I; McKinney, J; Haavik, J; Thöny, B; Martinez, A (2010). Effect of pharmacological chaperones on brain tyrosine hydroxylase and tryptophan hydroxylase 2. Journal of Neurochemistry, 114(3):853-863.

Thöny, B (2010). Long-term correction of murine phenylketonuria by viral gene transfer: liver versus muscle. Journal of Inherited Metabolic Disease, 33(6):677-680.

Phenylketonuria and BH4 deficiencies. Edited by: Blau, N; Burton, B K; Thöny, B; van Spronsen, F J; Waisbren, S (2010). Bremen: UNI-MED Verlag AG.

Fischer, M; Thöny, B; Leimkühler, S (2010). The biosynthesis of folate and pterins and their enzymology. In: Mander, L; Lui, H W. Comprehensive natural products II chemistry and biology. Oxford: Elsevier, 599-648.

Meili, D; Kralovicova, J; Zagalak, J; Bonafé, L; Fiori, L; Blau, N; Thöny, B; Vorechovsky, I (2009). Disease-causing mutations improving the branch site and polypyrimidine tract: pseudoexon activation of LINE-2 and antisense Alu lacking the poly(T)-tail. Human Mutation, 30(5):823-831.

Verbeek, M M; Willemsen, M A; Wevers, R A; Lagerwerf, A J; Abeling, N G; Blau, N; Thöny, B; Vargiami, E; Zafeiriou, D I (2008). Two Greek siblings with sepiapterin reductase deficiency. Molecular Genetics and Metabolism, 94(4):403-409.

Blau, N; Thöny, B (2008). Pterins and related enzymes. In: Blau, N; Duran, M; Gibson, K M. Laboratory guide to the methods in biochemical genetics. Berlin Heidelberg, Germany: Springer Verlag, 665-701.

Ding, Z; Harding, C O; Rebuffat, A; Elzaouk, L; Wolff, J A; Thöny, B (2008). Correction of murine PKU following AAV-mediated intramuscular expression of a complete phenylalanine hydroxylating system. Molecular Therapy, 16(4):673-681.

Pey, A L; Ying, M; Cremades, N; Velazquez-Campoy, A; Scherer, T; Thöny, B; Sancho, J; Martinez, A (2008). Identification of pharmacological chaperones as potential therapeutic agents to treat phenylketonuria. Journal of Clinical Investigation, 118(8):2858-2867.

Zurflüh, M R; Zschocke, J; Lindner, M; Feillet, F; Chery, C; Burlina, A; Stevens, R C; Thöny, B; Blau, N (2008). Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Human Mutation, 29(1):167-175.

Haavik, J; Blau, N; Thöny, B (2008). Mutations in human monoamine-related neurotransmitter pathway genes. Human Mutation, 29(7):891-902.

Thöny, B; Calvo, A C; Scherer, T; Svebak, R M; Haavik, J; Blau, N; Martinez, A (2008). Tetrahydrobiopterin shows chaperone activity for tyrosine hydroxylase. Journal of Neurochemistry, 106(2):672-681.

Zurflüh, M R; Fiori, L; Fiege, B; Ozen, I; Demirkol, M; Gärtner, K H; Thöny, B; Giovannini, M; Blau, N (2006). Pharmacokinetics of orally administered tetrahydrobiopterin in patients with phenylalanine hydroxylase deficiency. Journal of Inherited Metabolic Disease, 29(6):725-731.

This list was generated on Tue Jun 18 15:32:53 2019 CEST.