Yorifuji T - Search Results

1

Gas chromatographic-mass spectrometric newborn screening for propionic acidaemia by targeting methylcitrate in dried filter-paper urine samples.

Kuhara T, Ohse M, Inoue Y, Yorifuji T, Sakura N, Mitsubuchi H, Endo F, Ishimatu J. Kuhara T, et al. Among authors: yorifuji t. J Inherit Metab Dis. 2002 May;25(2):98-106. doi: 10.1023/a:1015620609075. J Inherit Metab Dis. 2002. PMID: 12118533

2

Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications.

Yorifuji T, Kawai M, Muroi J, Mamada M, Kurokawa K, Shigematsu Y, Hirano S, Sakura N, Yoshida I, Kuhara T, Endo F, Mitsubuchi H, Nakahata T. Yorifuji T, et al. Hum Genet. 2002 Aug;111(2):161-5. doi: 10.1007/s00439-002-0761-z. Epub 2002 Jul 4. Hum Genet. 2002. PMID: 12189489

3

Long-term outcome and intervention of urea cycle disorders in Japan.

Kido J, Nakamura K, Mitsubuchi H, Ohura T, Takayanagi M, Matsuo M, Yoshino M, Shigematsu Y, Yorifuji T, Kasahara M, Horikawa R, Endo F. Kido J, et al. Among authors: yorifuji t. J Inherit Metab Dis. 2012 Sep;35(5):777-85. doi: 10.1007/s10545-011-9427-0. Epub 2011 Dec 14. J Inherit Metab Dis. 2012. PMID: 22167275

4

Living-donor liver transplantation for propionic acidaemia.

Yorifuji T, Kawai M, Mamada M, Kurokawa K, Egawa H, Shigematsu Y, Kohno Y, Tanaka K, Nakahata T. Yorifuji T, et al. J Inherit Metab Dis. 2004;27(2):205-10. doi: 10.1023/B:BOLI.0000028778.54210.13. J Inherit Metab Dis. 2004. PMID: 15159651

5

Current status of hepatic glycogen storage disease in Japan: clinical manifestations, treatments and long-term outcomes.

Kido J, Nakamura K, Matsumoto S, Mitsubuchi H, Ohura T, Shigematsu Y, Yorifuji T, Kasahara M, Horikawa R, Endo F. Kido J, et al. Among authors: yorifuji t. J Hum Genet. 2013 May;58(5):285-92. doi: 10.1038/jhg.2013.17. Epub 2013 Mar 14. J Hum Genet. 2013. PMID: 23486339

6

X-inactivation pattern in the liver of a manifesting female with ornithine transcarbamylase (OTC) deficiency.

Yorifuji T, Muroi J, Uematsu A, Tanaka K, Kiwaki K, Endo F, Matsuda I, Nagasaka H, Furusho K. Yorifuji T, et al. Clin Genet. 1998 Oct;54(4):349-53. doi: 10.1034/j.1399-0004.1998.5440415.x. Clin Genet. 1998. PMID: 9831349

7

Clinical features and management of organic acidemias in Japan.

Fujisawa D, Nakamura K, Mitsubuchi H, Ohura T, Shigematsu Y, Yorifuji T, Kasahara M, Horikawa R, Endo F. Fujisawa D, et al. Among authors: yorifuji t. J Hum Genet. 2013 Dec;58(12):769-74. doi: 10.1038/jhg.2013.97. Epub 2013 Sep 26. J Hum Genet. 2013. PMID: 24067294

8

Altered metabolisms of mediators controlling vascular function and enhanced oxidative stress in asymptomatic children with congenital portosystemic venous shunt.

Nagasaka H, Okano Y, Aizawa M, Miida T, Yorifuji T, Tajima G, Sakura N, Takatani T, Sanayama Y, Sugamoto K, Mayumi M, Kobayashi K, Hirano K, Takayanagi M, Tsukahara H. Nagasaka H, et al. Among authors: yorifuji t. Metabolism. 2010 Jan;59(1):107-13. doi: 10.1016/j.metabol.2009.07.013. Epub 2009 Sep 18. Metabolism. 2010. PMID: 19766269

9

Cerebral infarction and pancreatitis: possible complications of patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.

Muroi J, Yorifuji T, Uematsu A, Nakahata T. Muroi J, et al. Among authors: yorifuji t. J Inherit Metab Dis. 2000 Sep;23(6):636-7. doi: 10.1023/a:1005642316174. J Inherit Metab Dis. 2000. PMID: 11032339 No abstract available.

10

Living-related liver transplantation for neonatal-onset propionic acidemia.

Yorifuji T, Muroi J, Uematsu A, Nakahata T, Egawa H, Tanaka K. Yorifuji T, et al. J Pediatr. 2000 Oct;137(4):572-4. doi: 10.1067/mpd.2000.108391. J Pediatr. 2000. PMID: 11035841

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