儿童遗的传代谢性脑病的诊断及治疗.pdfVIP

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儿童遗的传代谢性脑病的诊断及治疗.pdf

儿童遗的传代谢性脑病的诊断及治疗

·574 · ChineseJournalofPracticalPediatricsAugust.2014Vol.29No.8 [2 ] Tanaka K ,Budd MA ,Efron ML ,et al. Isovaleric acidemia:a tion study for five lysosomal storage disorders [J ]. Clin Chim new genetic defect of isoleucine metabolism [J ]. Proc Natl Acad Acta ,2012 ,413 (15-16):1270-1273. Sci USA ,1966,56:236-242. [19] Bamshad MJ ,Ng SB ,Bigham AW ,et al. Exome sequencing [3 ] Cheng J ,Fortina P ,Surrey S ,et al. Micro-chip-based devices

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