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

Internet

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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