Mutations in the Sepiapterin Reductase Gene Cause a Novel Tetrahydrobiopterin-Dependent Monoamine-Neurotransmitter Deficiency without Hyperphenylalaninemia

Luisa Bonafé, Beat Thöny, Johann Penzien, Nenad Blau

The American Journal of Human Genetics · 2001 · 237 citations · 41 references

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