Loading...

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...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i:Int J Neonatal Screen
Main Authors: Hall, Patricia L., Sanchez, Rossana, Hagar, Arthur F., Jerris, S. Caleb, Wittenauer, Angela, Wilcox, William R.
Format: Artigo
Sprog:Inglês
Udgivet: MDPI 2020
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7021244/
https://ncbi.nlm.nih.gov/pubmed/32064362
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijns6010002
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!