Precision newborn screening for lysosomal disorders
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DOI: 10.1038/gim.2017.194
Abstract: PurposeThe implementation of newborn screening for lysosomal disorders has uncovered overall poor specificity, psychosocial harm experienced by caregivers, and costly follow-up testing of false-positive cases. We report an informatics solution proven to minimize these issues.MethodsThe… read more here.
Keywords: precision newborn; lysosomal disorders; screening lysosomal; false positive ... See more keywords