Two-Tiered Newborn Screening with Post-Analytical Tools for Pompe Disease and Mucopolysaccharidosis Type I Results in Performance Improvement and Future Direction

We conducted a pilot newborn screening (NBS) study for Pompe disease (PD) and mucopolysaccharidosis type I (MPS I) in the multiethnic population of Georgia. We screened 59,332 infants using a two-tier strategy of flow injection tandem mass spectrometry (FIA-MSMS) enzyme assays. The first tier of tes...

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Detalles Bibliográficos
Autores principales: Hall, Patricia L., Sanchez, Rossana, Hagar, Arthur F., Jerris, S. Caleb, Wittenauer, Angela, Wilcox, William R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7021244/
https://www.ncbi.nlm.nih.gov/pubmed/32064362
http://dx.doi.org/10.3390/ijns6010002

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7021244/
https://www.ncbi.nlm.nih.gov/pubmed/32064362
http://dx.doi.org/10.3390/ijns6010002

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