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Received: Accepted: Published: Version of record: DOI: Keywords Tetrahydrobiopterin deficiency BH 4 Neurotransmitter Guanosine triphosphate cyclohydrolase deficiency 6-pyruvoyltetrahydropterin synthase deficiency Sepiapterin reductase deficiency, pterin-4-alpha-carbinolamine dehydratase deficiency Dihydropteridine reductase deficiency Hyperphenylalaninemia iNTD Consensus guidelines SIGN

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