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Neonatal Testing Top Open Access

Newborn screening (NBS) is a public health screening system for diseases that are treatable but not clinically visible in the newborn era of babies shortly after birth. The goal is to locate children at risk for such conditions as early as possible to validate the diagnosis and provide the therapy that can change the disease's clinical path and avoid or enhance the clinical condition. NBS started with the discovery that a dietary modification could treat the amino acid disorder phenylketonuria (PKU) and that early intervention was needed for the best outcome. Children with PKU tend to be fine at birth but cannot metabolize the essential amino acid phenylalanine, contributing to lifelong intellectual disability.    

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