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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...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: Wang, Li-Yun, Chen, Nien-I, Chen, Pin-Wen, Chiang, Shu-Chuan, Hwu, Wuh-Liang, Lee, Ni-Chung, Chien, Yin-Hsiu
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: BioMed Central 2013
Θέματα:
Διαθέσιμο Online: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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