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Results 1 - 2 of 2 for "6-Pyruvoyl-tetrahydrobiopterin" synthase deficiency
  1. Tetrahydrobiopterin deficiency 
    ... Testing Registry: Dihydropteridine reductase deficiency Genetic Testing Registry: 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency Genetic Testing Registry: Pterin-4 alpha-carbinolamine dehydratase ...
    https://medlineplus.gov/.../condition/tetrahydrobiopterin-deficiency - Genetics
  2. PTS gene 
    ... outcome and neuroradiological findings of 31 patients with 6-pyruvoyltetrahydropterin synthase deficiency. J Inherit Metab Dis. 2006 Feb;29(1):127-34. doi: 10.1007/s10545-006-0080-y. Citation on PubMed
    https://medlineplus.gov/genetics/gene/pts - Genetics