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hyperphenylalaninemia, bh4-deficient
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Tetrahydrobiopterin biosynthesis, regeneration and functions
Human 6-pyruvoyltetrahydropterin synthase: cDNA cloning and heterologous expression of the recombinant enzyme
Hyperphenylalaninemia due to deficiency of 6-pyruvoyl tetrahydropterin synthase. Unusual gene dosage effect in heterozygotes
Structural and functional consequences of mutations in 6-pyruvoyltetrahydropterin synthase causing hyperphenylalaninemia in humans. Phosphorylation is a requirement for in vivo activity
A missense mutation (A to G) of 6-pyruvoyltetrahydropterin synthase in tetrahydrobiopterin-deficient form of hyperphenylalaninemia
GCH1
Disorders of biopterin metabolism
QDPR
Novel MITF targets identified using a two-step DNA microarray strategy
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Folate biosynthesis
Homo sapiens (human)
3 genes
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