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Second Tier Molecular Genetic Testing in Newborn Screening for Pompe Disease: Landscape and Challenges

Pompe disease (PD) is screened by a two tier newborn screening (NBS) algorithm, the first tier of which is an enzymatic assay performed on newborn dried blood spots (DBS). As first tier enzymatic screening tests have false positive results, an immediate second tier test on the same sample is critica...

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Detalhes bibliográficos
Publicado no:Int J Neonatal Screen
Main Authors: Smith, Laurie D., Bainbridge, Matthew N., Parad, Richard B., Bhattacharjee, Arindam
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7189780/
https://ncbi.nlm.nih.gov/pubmed/32352041
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijns6020032
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