Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8812903 | The Journal of Pediatrics | 2017 | 6 Pages |
Abstract
The incidences of Fabry disease and Pompe disease were significantly higher than published estimates, although most cases detected were predicted to be late onset. The incidences of Gaucher disease, MPS I, and Niemann-Pick disease were comparable with previously published estimates. A total of 16 infants could not be positively identified as either affected or unaffected. To validate the true risks and benefits of newborn screening for LSD, long term follow-up in these infants and those detected with later-onset disorders will be essential.
Keywords
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Authors
Barbara K. MD, Joel MD, George E. MD, Darrell MD, Brad MD, Stephen R. MD, Michael MD, PhD, Dorothy K. MD, Claudia MS, Heather Shryock, Rebecca BA, Rong PhD, Khaja PhD, George PhD,