Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests

• Main Authors: Wang Li-Yun (Author), Chen Nien-I (Author), Chen Pin-Wen (Author), Chiang Shu-Chuan (Author), Hwu Wuh-Liang (Author), Lee Ni-Chung (Author), Chien Yin-Hsiu (Author)
• Format: Book
• Published: BMC, 2013-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>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,...