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- W3016214847 abstract "Abstract Newborn screening (NBS) is a well‐established state‐run public health program which has targeted the early identification of treatable diseases like classic galactosemia (CG) for over a decade. We describe the case of a symptomatic newborn with CG and an abnormal screen report, including positive DNA‐based test, who still managed to fall through the cracks in a sub‐optimally functioning NBS program, despite decades of screening experience. While much attention is paid to testing technology, this case illustrates basic minimum requirements a newborn screening program must fulfill to reliably identify and treat all affected individuals including minimum reporting requirements, case surveillance and a dedicated short‐term follow‐up program. In newborn screening, success is systematic." @default.
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- W3016214847 date "2020-04-10" @default.
- W3016214847 modified "2023-10-17" @default.
- W3016214847 title "How a baby with classic galactosemia was nearly missed: When the test succeeds but system fails" @default.
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- W3016214847 doi "https://doi.org/10.1002/ajmg.a.61587" @default.
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