Current Practices for U.S. Newborn Screening of Pompe Disease and MPSI
Two lysosomal storage disorders (LSDs), Pompe disease and Mucopolysaccharidosis type I (MPSI) were added to the Recommended Uniform Screening Panel (RUSP) for newborn screening (NBS) in 2015 and 2016, respectively. These conditions are being screened with variable practice in terms of primary and re...
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MDPI AG,
2020-09-01T00:00:00Z.
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