Associated Papers
Retrospective analysis of 19 patients with 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Prolactin levels inversely correlate with growth.
Manzoni F et al.
Molecular Genetics and Metabolism, 2020
6-Pyruvoyltetrahydropterin Synthase Deficiency: Review and Report of 28 Arab Subjects.
Almannai M et al.
Pediatric Neurology, 2019
Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes.
Thöny B et al.
Human Mutation, 1997
Structural and functional consequences of mutations in 6-pyruvoyltetrahydropterin synthase causing hyperphenylalaninemia in humans. Phosphorylation is a requirement for in vivo activity.
Oppliger T et al.
The Journal of Biological Chemistry, 1995
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