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The Journal of Biological Chemistry|December 8, 1995
Structural and functional consequences of mutations in 6-pyruvoyltetrahydropterin synthase causing hyperphenylalaninemia in humans. Phosphorylation is a requirement for in vivo activityT Oppliger, B Thöny, H Nar, et al.
Journal of Tongji Medical University = Tong Ji Yi Ke Da Xue Xue Bao|January 1, 1992
The screening diagnosis of tetrahydrobiopterin deficient phenylketonuriaC Ning, S R Liu, H Wei, et al.
Enzyme|January 1, 1992
Purification and characterization of 6-pyruvoyl tetrahydropterin synthase from human pituitary glandJ Guzman, U Redweik, G Schoedon, et al.
American Journal of Respiratory and Critical Care Medicine|December 31, 1997
Inhalation of the nitric oxide synthase cofactor tetrahydrobiopterin in healthy volunteersR Walter, N Blau, A Schaffner, et al.
Helvetica Paediatrica Acta|September 1, 1980
Excretion of pterins in phenylketonuria and phenylketonuria variantsA Niederwieser, H C Curtius, R Gitzelmann, et al.
Human Mutation|April 29, 1999
Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemiaT Scherer-Oppliger, A Matasovic, S Laufs, et al.
Molecular Genetics and Metabolism|May 22, 2012
Positive effect of a simplified diet on blood phenylalanine control in different phenylketonuria variants, characterized by newborn BH4 loading test and PAH analysisM Zimmermann, P Jacobs, R Fingerhut, et al.
Molecular Genetics and Metabolism|June 28, 2000
Evaluation of urinary acylglycines by electrospray tandem mass spectrometry in mitochondrial energy metabolism defects and organic aciduriasL Bonafé, H Troxler, T Kuster, et al.
Biochemical and Biophysical Research Communications|March 29, 1991
Human carbonyl and aldose reductases: new catalytic functions in tetrahydrobiopterin biosynthesisY S Park, C W Heizmann, B Wermuth, et al.
Molecular Genetics and Metabolism|November 1, 2002
Two novel genetic lesions and a common BH4-responsive mutation of the PAH gene in Italian patients with hyperphenylalaninemiaT Bardelli, M A Donati, S Gasperini, et al.
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