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) <i>GAA</i> gene sequencing analysis. This study examines results from the first yea...

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Hlavní autoři:	Hao Tang, Lisa Feuchtbaum, Stanley Sciortino, Jamie Matteson, Deepika Mathur, Tracey Bishop, Richard S. Olney
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	MDPI AG 2020-02-01
Edice:	International Journal of Neonatal Screening
Témata:	pompe disease newborn screening california
On-line přístup:	https://www.mdpi.com/2409-515X/6/1/9
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