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Chapter
Phenylketonuria: Phenylalanine Neurotoxicity
Phenylketonuria (PKU) was the first inherited metabolic disease identified by newborn screening and treated with diet to prevent the development of intellectual ...
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Chapter
Metabolic Intoxication Syndrome in a Newborn
Inborn errors of metabolism should be considered alongside other diagnoses in all neonates with unclear, severe, or progressive illness.
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Article
Open AccessDiagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region: survey results
To avoid potentially severe outcomes, phenylketonuria (PKU) must be detected as soon as possible after birth and managed with life-long treatment. A questionnaire-based survey was performed to document diagnos...
