Author:
Fujisawa Daisuke,Nakamura Kimitoshi,Mitsubuchi Hiroshi,Ohura Toshihiro,Shigematsu Yosuke,Yorifuji Tohru,Kasahara Mureo,Horikawa Reiko,Endo Fumio
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Reference25 articles.
1. Fenton, W. A., Gravel, R. A. & Rosenblatt, D. S. in The Metabolic and Molecular Bases of Inherited Disease 8th (eds Scriver C. R., Beaudet A. L., Sly W. S., Valle D., 2165–2193 (McGraw-Hill: New York, 2001).
2. Kido, J., Nakamura, K., Mitsubuchi, H., Ohura, T., Takayanagi, M., Matsuo, M. et al. Long-term outcome and intervention of urea cycle disorders in Japan. J. Inherit. Metab. Dis. 35, 777–785 (2012).
3. Kido, J., Nakamura, K., Matsumoto, S., Mitsubuchi, H., Ohura, T., Shigematsu, Y. et al. Current status of hepatic glycogen storage disease in Japan: clinical manifestations, treatments and long-term outcomes. J. Hum. Genet. 58, 285–292 (2013).
4. Millington, D. S., Kodo, N., Norwood, D. L. & Roe, C. R. Tandem mass spectrometry: a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism. J. Inherit. Metab. Dis. 13, 321–324 (1990).
5. Grünert, S. C., Müllerleile, S., de Silva, L., Barth, M., Walter, M., Walter, K. et al. Propionic acidemia: neonatal versus selective metabolic screening. J. Inherit. Metab. Dis. 35, 41–49 (2012).
Cited by
23 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献