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  • Title: Metabolic disease of the neonate and young infant.
    Author: Seashore MR, Rinaldo P.
    Journal: Semin Perinatol; 1993 Oct; 17(5):318-29. PubMed ID: 8290974.
    Abstract:
    The inborn errors of metabolism must always be considered when a newborn presents with neurological distress, feeding difficulties, or a family history of neonatal or unexplained death. Clinical suspicion combined with prompt sophisticated laboratory evaluation is crucial if infants affected with this group of disorders are to be rescued.
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