Inborn errors of metabolism in Neonatology: clues for successful diagnosis and treatment.

Early diagnosis and management of newborns and infants with inherited metabolic disorders is essential for the affected children’s outcome. However, the quick and correct recognition of specific inherited metabolic disease in neonates is a challenge for neonatologists. It may be difficult, especially in critically ill neonates, to distinguish between the primary genetically encoded metabolic disorder and the secondary metabolic disturbances resulting in similar clinical picture (...)

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