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

Li-Yun Wang, Nien-I Chen, Pin-Wen Chen, Shu-Chuan Chiang, Wuh-Liang Hwu, Ni-Chung Lee and Yin-Hsiu Chien*

BMC Medical Genetics 2013, 14:24  doi:10.1186/1471-2350-14-24

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