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"6-pyruvoyltetrahydropterin"
- ... gene provides instructions for making an enzyme called 6-pyruvoyltetrahydropterin synthase. This enzyme is involved in the second ... by PTS gene mutations, it is known as 6-pyruvoyltetrahydropterin synthase (PTS) deficiency. PTS deficiency accounts for more ...
- ... outcome and neuroradiological findings of 31 patients with 6-pyruvoyltetrahydropterin synthase deficiency. J Inherit Metab Dis. 2006 Feb; ...