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4 520例新生儿苯丙酮尿症筛查体会

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作者 朱萍
出处 《青海医药杂志》 2006年第3期40-40,共1页 Qinghai Medical Journal
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  • 1沈明,喻唯民,徐力,李大维,霍力岩,万芳.苯丙酮尿症患儿发育商与早期干预初步探讨[J].中日友好医院学报,1994,8(3):151-154. 被引量:5
  • 2张书香,喻唯民,王桂芝,常文琪.94例苯丙酮尿症的脑电图分析[J].临床脑电学杂志,1995,4(3):139-141. 被引量:1
  • 3薛启蓂 喻唯民.氨基酸代谢病[A].见:何凤生 薛启蓂主编.神经系统中毒及代谢性疾病[C].北京:人民军医出版社,2002.269-297.
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  • 5Zhou ZSH, Yu WM, Fukuyama YK, et al. Clinical analysis of West syndrome associated with phenylketonuria.Brain Develop, 2001, 23(3):552-557.
  • 6Yu WM. Retrospective review of diagnosis and treatment for PKU in China-Japan Friendship Hospital. J Jap Society Inherit Metab Dis, 2001, 17(2):232.
  • 7Yu WM, Li XW, Jin YY, et al. A study of 230 eases of phenylketonuria in China. In: Stephen TS Lain, Calving CP Pang eds. Neonatal and perinatal screening. Hong Kong:The Chinese University of Hong Kong, 1996, 75-79.
  • 8Blau N, Thony B, Spada M, et al. Tetrahydrobiopterin and inherited hyperphenylalaninemias. Turk J Pediatr, 1996,38:19-35.
  • 9Jardim LB, Giugliam R, Coelho JC, et al. Possible high frequency of tetrahydrobiopterin deficiency in south Brazil.J Inherit Metab Dis, 1994, 17:223-225.
  • 10Liu TT, Lu SF, Hsiao KJ, et al. Genomic structure of 6-pyruvoyl-tetrahydropterin synthase gene and a T/C polymorphism detected in Chinese. J Biomed Lab Sci, 1998, 10(1)39-47.

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