Increased detection of primary carnitine deficiency through second-tier newborn genetic screening

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...

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Bibliographic Details
Main Authors: Yiming Lin, Weifeng Zhang, Chenggang Huang, Chunmei Lin, Weihua Lin, Weilin Peng, Qingliu Fu, Dongmei Chen
Format: Article
Language:English
Published: BMC 2021-03-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Primary carnitine deficiency
Newborn screening
Free carnitine
Second-tier screening
Online Access:https://doi.org/10.1186/s13023-021-01785-6

Internet

https://doi.org/10.1186/s13023-021-01785-6

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