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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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Dettagli Bibliografici
Pubblicato in:Int J Neonatal Screen
Autori principali: Ames, Elizabeth G., Fisher, Rachel, Kleyn, Mary, Ahmad, Ayesha
Natura: Artigo
Lingua:Inglês
Pubblicazione: MDPI 2020
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Accesso online: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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