No abstract available
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adolescent
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Biopterins / analogs & derivatives*
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Biopterins / deficiency
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Child
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Child, Preschool
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Consanguinity
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Female
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Homovanillic Acid / urine
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Humans
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Hydroxyindoleacetic Acid / urine
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Infant, Newborn
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Male
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Mass Screening
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Metabolism, Inborn Errors / diagnosis*
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Metabolism, Inborn Errors / epidemiology
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Metabolism, Inborn Errors / metabolism
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Phenylalanine / blood
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Phenylketonurias* / diagnosis*
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Phenylketonurias* / prevention & control
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Portugal / epidemiology
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Pterins / cerebrospinal fluid
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Pterins / urine
Substances
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Pterins
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Biopterins
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Phenylalanine
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Hydroxyindoleacetic Acid
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sapropterin
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Homovanillic Acid