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Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests
BACKGROUND: Tandem mass spectrometry (MS/MS) analysis is a powerful tool for newborn screening, and many rare inborn errors of metabolism are currently screened using MS/MS. However, the sensitivity of MS/MS screening for several inborn errors, including citrin deficiency (screened by citrulline lev...
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| Main Authors: | , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2013
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3575349/ https://ncbi.nlm.nih.gov/pubmed/23394329 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-14-24 |
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