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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Detalles Bibliográficos
Autores principales: Smith, Laurie D., Bainbridge, Matthew N., Parad, Richard B., Bhattacharjee, Arindam
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7189780/
https://www.ncbi.nlm.nih.gov/pubmed/32352041
http://dx.doi.org/10.3390/ijns6020032

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7189780/
https://www.ncbi.nlm.nih.gov/pubmed/32352041
http://dx.doi.org/10.3390/ijns6020032

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