Increased detection of primary carnitine deficiency through second-tier newborn genetic screening
Abstract Background Newborn screening for primary carnitine deficiency (NBS) is commonly implemented worldwide; however, it has poor sensitivity. This study aimed to evaluate the feasibility of improving screening by including a second-tier genetic assay. Results An Agena iPLEX assay was developed t...
Main Authors: | , , , , , , , |
---|---|
Format: | Article |
Language: | English |
Published: |
BMC
2021-03-01
|
Series: | Orphanet Journal of Rare Diseases |
Subjects: | |
Online Access: | https://doi.org/10.1186/s13023-021-01785-6 |