A highly multiplexed biochemical assay for analytes in dried blood spots: application to newborn screening and diagnosis of lysosomal storage disorders and other inborn errors of metabolism.
Hong Xinying et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Apr
Hong Xinying et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Apr
We report a highly multiplexed UPLC-MS/MS assay that is appropriate for the newborn screening of 15 lysosomal storage diseases and 3 additional inborn errors. It can be further expanded to include additional conditions for which presymptomatic diagnosis may facilitate optimum treatment outcome.
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