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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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| Vydáno v: | Int J Neonatal Screen |
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| Hlavní autoři: | , , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
MDPI
2020
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| 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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