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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Detalhes bibliográficos

Principais autores:	Yiming Lin, Weifeng Zhang, Chenggang Huang, Chunmei Lin, Weihua Lin, Weilin Peng, Qingliu Fu, Dongmei Chen
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMC 2021-03-01
coleção:	Orphanet Journal of Rare Diseases
Assuntos:	Primary carnitine deficiency Newborn screening Free carnitine Second-tier screening
Acesso em linha:	https://doi.org/10.1186/s13023-021-01785-6
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