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Tetrahydrobiopterin Deficiency in Portugal: Results of the Screening for Hyperphenylalaninemia

Isabel Tavares de Almeida, Paula Leandro, Roberto C. Portela, A. Cabral, Filomena Eusébio, Teresa Tasso, A. Matasović, Nenad Blau

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Key concepts: Hyperphenylalaninemia, Tetrahydrobiopterin, Phenylalanine hydroxylase, Phenylalanine, Biopterin, Medicine, Phenylketonurias, Cofactor

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Tetrahydrobiopterin Deficiency in Portugal: Results of the Screening for Hyperphenylalaninemia — Research Paper | ScholarLens