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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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Detalles Bibliográficos
Autores principales:	Tang, Hao, Feuchtbaum, Lisa, Sciortino, Stanley, Matteson, Jamie, Mathur, Deepika, Bishop, Tracey, Olney, Richard S.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2020
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7422988/ https://www.ncbi.nlm.nih.gov/pubmed/33073007 http://dx.doi.org/10.3390/ijns6010009

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