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"Pterin-4" "alpha-carbinolamine" dehydratase 1 deficiency
- ... 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency Genetic Testing Registry: Pterin-4 alpha-carbinolamine dehydratase 1 deficiency Genetic Testing Registry: GTP cyclohydrolase I deficiency Hyperphenylalaninemia ...
- ... phenylalanine in the blood, this form of tetrahydrobiopterin deficiency rarely causes ... nuclear factor 1 alpha (TCF1) Carbinolamine-4a-dehydratase DCOH Dimerization cofactor ...