Cargando…
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...
| Autores principales: | , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2013
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3575349/ https://www.ncbi.nlm.nih.gov/pubmed/23394329 http://dx.doi.org/10.1186/1471-2350-14-24 |