Showing results (1-10 of 245) with videos related to

Sort By:
Pageof 25
Human 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 Blau
Human Mutation|April 30, 2008
Mutations in human monoamine-related neurotransmitter pathway genesJan Haavik, Nenad Blau, Beat Thöny
Journal of Neurochemistry|March 21, 2002
Reduced nitric oxide metabolites in CSF of patients with tetrahydrobiopterin deficiencyGiovanna Zorzi, Beat Thöny, Nenad Blau
Molecular Genetics and Metabolism|April 27, 2021
Molecular and metabolic bases of tetrahydrobiopterin (BH4) deficienciesNastassja Himmelreich, Nenad Blau, Beat Thöny
The Biochemical Journal|August 27, 2011
Tetrahydrobiopterin: biochemistry and pathophysiologyErnst R Werner, Nenad Blau, Beat Thöny
Molecular Genetics and Metabolism|November 28, 2017
DNAJC12 deficiency: A new strategy in the diagnosis of hyperphenylalaninemiasNenad Blau, Aurora Martinez, Georg F Hoffmann, et al.
Molecular Genetics and Metabolism|December 25, 2010
Autism associated with low 5-hydroxyindolacetic acid in CSF and the heterozygous SLC6A4 gene Gly56Ala plus 5-HTTLPR L/L promoter variantsDea Adamsen, David Meili, Nenad Blau, et al.
Molecular Genetics and Metabolism|February 4, 2012
Quantification of phenylalanine hydroxylase activity by isotope-dilution liquid chromatography-electrospray ionization tandem mass spectrometryCaroline Heintz, Heinz Troxler, Aurora Martinez, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|June 23, 2016
Neurological improvement following intravenous high-dose folinic acid for cerebral folate transporter deficiency caused by FOLR-1 mutationFrançoise Delmelle, Beat Thöny, Philippe Clapuyt, et al.
Molecular Genetics and Metabolism|November 18, 2005
Stimulation of hepatic phenylalanine hydroxylase activity but not Pah-mRNA expression upon oral loading of tetrahydrobiopterin in normal miceRossana Scavelli, Zhaobing Ding, Nenad Blau, et al.
Pageof 25