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...
Saved in:
| Main Authors: | , , , |
|---|---|
| Format: | Book |
| Published: |
MDPI AG,
2020-04-01T00:00:00Z.
|
| Subjects: | |
| Online Access: | Connect to this object online. |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Internet
Connect to this object online.3rd Floor Main Library
| Call Number: |
A1234.567 |
|---|---|
| Copy 1 | Available |