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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.