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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...
Salvato in:
| Pubblicato in: | Orphanet J Rare Dis |
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| Autori principali: | , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
BioMed Central
2021
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| Soggetti: | |
| Accesso online: | 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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