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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Detalles Bibliográficos
Autores principales: Wang, Li-Yun, Chen, Nien-I, Chen, Pin-Wen, Chiang, Shu-Chuan, Hwu, Wuh-Liang, Lee, Ni-Chung, Chien, Yin-Hsiu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Technical Advance
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

Internet

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

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