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The First Year Experience of Newborn Screening for Pompe Disease in California

The California Department of Public Health started universal newborn screening for Pompe disease in August 2018 with a two-tier process including: (1) acid alpha-glucosidase (GAA) enzyme activity assay followed by, (2) GAA gene sequencing analysis. This study examines results from the first year of...

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Podrobná bibliografie
Vydáno v:Int J Neonatal Screen
Hlavní autoři: Tang, Hao, Feuchtbaum, Lisa, Sciortino, Stanley, Matteson, Jamie, Mathur, Deepika, Bishop, Tracey, Olney, Richard S.
Médium: Artigo
Jazyk:Inglês
Vydáno: MDPI 2020
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7422988/
https://ncbi.nlm.nih.gov/pubmed/33073007
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijns6010009
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