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Journal of Inherited Metabolic Disease|February 13, 2010
Long-term correction of murine phenylketonuria by viral gene transfer: liver versus muscleBeat ThönyHuman Mutation|August 19, 2006
Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductaseBeat Thöny, Nenad BlauHuman Mutation|April 30, 2008
Mutations in human monoamine-related neurotransmitter pathway genesJan Haavik, Nenad Blau, Beat ThönyJournal of Neurochemistry|March 21, 2002
Reduced nitric oxide metabolites in CSF of patients with tetrahydrobiopterin deficiencyGiovanna Zorzi, Beat Thöny, Nenad BlauFEBS Letters|November 24, 2004
Tetrahydrobiopterin protects phenylalanine hydroxylase activity in vivo: implications for tetrahydrobiopterin-responsive hyperphenylalaninemiaBeat Thöny, Zhaobing Ding, Aurora MartínezMolecular Genetics and Metabolism|April 27, 2021
Molecular and metabolic bases of tetrahydrobiopterin (BH4) deficienciesNastassja Himmelreich, Nenad Blau, Beat ThönyMolecular Genetics and Metabolism|January 20, 2004
State-of-the-art 2003 on PKU gene therapyZhaobing Ding, Cary O Harding, Beat ThönyThe Biochemical Journal|August 27, 2011
Tetrahydrobiopterin: biochemistry and pathophysiologyErnst R Werner, Nenad Blau, Beat ThönyJIMD Reports|May 13, 2020
Tyrosine hydroxylase deficiency-Clinical insights and a novel deletion in TH gene in an Indian patientSunita Bijarnia-Mahay, Vivek Jain, Beat ThönyJournal of Neurochemistry|June 7, 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 productionAli Sajadi, Matthias Bauer, Beat Thöny, et al.Pageof 11