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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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Détails bibliographiques
Publié dans:Int J Neonatal Screen
Auteurs principaux: Ames, Elizabeth G., Fisher, Rachel, Kleyn, Mary, Ahmad, Ayesha
Format: Artigo
Langue:Inglês
Publié: MDPI 2020
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7569971/
https://ncbi.nlm.nih.gov/pubmed/33239598
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijns6030072
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