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

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 to ident...

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Detalles Bibliográficos
Autores principales: Lin, Yiming, Zhang, Weifeng, Huang, Chenggang, Lin, Chunmei, Lin, Weihua, Peng, Weilin, Fu, Qingliu, Chen, Dongmei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7988980/
https://www.ncbi.nlm.nih.gov/pubmed/33757571
http://dx.doi.org/10.1186/s13023-021-01785-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7988980/
https://www.ncbi.nlm.nih.gov/pubmed/33757571
http://dx.doi.org/10.1186/s13023-021-01785-6

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