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- W2783152504 abstract "Advances in Newborn Screening; Tandem mass spectrometry and next generation sequencing David Finegold, MD [dnf@pitt.edu] Department of Human Genetics, Pitt Public Health, University of Pittsburgh, 130 Desoto Street, Pittsburgh, PA, USA 15230 Background: Newborn screening developed as a public health program over the 1950s and 1960s. Since then, it has had a remarkable impact on early-onset treatable diseases. The modern era has seen a dramatic expansion in detection and diagnosis of a wide range of diseases, largely enabled by new technologies. Objectives: To review new technologies in newborn screening resulting in wider diagnostic capability and leading to improved outcomes. Impact and conclusions: Tandem mass spectrometry has enabled the ability to detect a wide range of disorders, including fatty acid oxidation disorders, organic acidemias, and urea cycle disorders. While each of these disorders is individually rare, as a group, they are far more common. Institution of early diagnosis and treatment has resulted in significantly less mortality and morbidity. Further studies of cost-effectiveness and cost savings in different populations remains to be completed." @default.
- W2783152504 created "2018-01-26" @default.
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- W2783152504 date "2017-12-07" @default.
- W2783152504 modified "2023-09-24" @default.
- W2783152504 title "Advances in Newborn Screening; Tandem mass spectrometry and next generation sequencing" @default.
- W2783152504 hasPublicationYear "2017" @default.
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