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Results 1 - 4 of 4 for "6-pyruvoyl-tetrahydropterin" synthase deficiency
  1. PTS gene 
    ... follow-up of patients with different forms of 6-pyruvoyl-tetrahydropterin synthase deficiency. Eur J Pediatr. 2001 May;160(5):267- ... ZA, Liao KK. Subtle brain dysfunction in treated 6-pyruvoyl-tetrahydropterin synthase deficiency: relationship to motor tasks and neurophysiological tests. Brain ...
    https://medlineplus.gov/genetics/gene/pts - Genetics
  2. Tetrahydrobiopterin deficiency 
    ... outcome and neuroradiological findings of 31 patients with 6-pyruvoyltetrahydropterin synthase deficiency. J Inherit Metab Dis. 2006 Feb;29(1): ...
    https://medlineplus.gov/.../condition/tetrahydrobiopterin-deficiency - Genetics
  3. PCBD1 gene 
    ... phenylalanine in the blood, this form of tetrahydrobiopterin deficiency rarely causes significant medical ... synthase/dimerization cofactor of hepatocyte nuclear factor 1 alpha ( ...
    https://medlineplus.gov/genetics/gene/pcbd1 - Genetics
  4. QDPR gene 
    ... in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase. ...
    https://medlineplus.gov/genetics/gene/qdpr - Genetics