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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Detalles Bibliográficos
Autores principales: Ames, Elizabeth G., Fisher, Rachel, Kleyn, Mary, Ahmad, Ayesha
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7569971/
https://www.ncbi.nlm.nih.gov/pubmed/33239598
http://dx.doi.org/10.3390/ijns6030072

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7569971/
https://www.ncbi.nlm.nih.gov/pubmed/33239598
http://dx.doi.org/10.3390/ijns6030072

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