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
Publicado en:Orphanet J Rare Dis
Main Authors: Lin, Yiming, Zhang, Weifeng, Huang, Chenggang, Lin, Chunmei, Lin, Weihua, Peng, Weilin, Fu, Qingliu, Chen, Dongmei
Formato: Artigo
Idioma:Inglês
Publicado: BioMed Central 2021
Assuntos:
Research
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC7988980/
https://ncbi.nlm.nih.gov/pubmed/33757571
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-021-01785-6
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