Ohura T - Search Results

1

Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency.

Uematsu M, Sakamoto O, Sugawara N, Kumagai N, Morimoto T, Yamaguchi S, Hasegawa Y, Kobayashi H, Ihara K, Yoshino M, Watanabe Y, Inokuchi T, Yokoyama T, Kiwaki K, Nakamura K, Endo F, Tsuchiya S, Ohura T. Uematsu M, et al. Among authors: ohura t. J Hum Genet. 2007;52(12):1040-1043. doi: 10.1007/s10038-007-0211-9. Epub 2007 Oct 30. J Hum Genet. 2007. PMID: 17968484

2

Novel missense mutation (R94S) in the TAZ ( G4.5) gene in a Japanese patient with Barth syndrome.

Sakamoto O, Kitoh T, Ohura T, Ohya N, Iinuma K. Sakamoto O, et al. Among authors: ohura t. J Hum Genet. 2002;47(5):229-31. doi: 10.1007/s100380200030. J Hum Genet. 2002. PMID: 12032589

3

Mutation and haplotype analyses of the MUT gene in Japanese patients with methylmalonic acidemia.

Sakamoto O, Ohura T, Matsubara Y, Takayanagi M, Tsuchiya S. Sakamoto O, et al. Among authors: ohura t. J Hum Genet. 2007;52(1):48-55. doi: 10.1007/s10038-006-0077-2. Epub 2006 Oct 31. J Hum Genet. 2007. PMID: 17075691

4

Molecular analysis of a presymptomatic case of carnitine palmitoyl transferase I (CPT I) deficiency detected by tandem mass spectrometry newborn screening in Japan.

Tsuburaya R, Sakamoto O, Arai N, Kobayashi H, Hasegawa Y, Yamaguchi S, Shigematsu Y, Takayanagi M, Ohura T, Tsuchiya S. Tsuburaya R, et al. Among authors: ohura t. Brain Dev. 2010 May;32(5):409-11. doi: 10.1016/j.braindev.2009.03.004. Epub 2009 Apr 3. Brain Dev. 2010. PMID: 19345525

5

Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia.

Yang X, Sakamoto O, Matsubara Y, Kure S, Suzuki Y, Aoki Y, Yamaguchi S, Takahashi Y, Nishikubo T, Kawaguchi C, Yoshioka A, Kimura T, Hayasaka K, Kohno Y, Iinuma K, Ohura T. Yang X, et al. Among authors: ohura t. Mol Genet Metab. 2004 Apr;81(4):335-42. doi: 10.1016/j.ymgme.2004.01.003. Mol Genet Metab. 2004. PMID: 15059621

6

A case surviving for over a year of renal tubular dysgenesis with compound heterozygous angiotensinogen gene mutations.

Uematsu M, Sakamoto O, Nishio T, Ohura T, Matsuda T, Inagaki T, Abe T, Okamura K, Kondo Y, Tsuchiya S. Uematsu M, et al. Among authors: ohura t. Am J Med Genet A. 2006 Nov 1;140(21):2355-60. doi: 10.1002/ajmg.a.31448. Am J Med Genet A. 2006. PMID: 17036344

7

Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation.

Otomo T, Muramatsu T, Yorifuji T, Okuyama T, Nakabayashi H, Fukao T, Ohura T, Yoshino M, Tanaka A, Okamoto N, Inui K, Ozono K, Sakai N. Otomo T, et al. Among authors: ohura t. J Hum Genet. 2009 Mar;54(3):145-51. doi: 10.1038/jhg.2009.3. Epub 2009 Feb 6. J Hum Genet. 2009. PMID: 19197337

8

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: ohura 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

9

First Japanese case of Zellweger syndrome with a mutation in PEX14.

Komatsuzaki S, Ogawa E, Shimozawa N, Sakamoto O, Haginoya K, Uematsu M, Hasegawa Y, Matsubara Y, Ohura T. Komatsuzaki S, et al. Among authors: ohura t. Pediatr Int. 2015 Dec;57(6):1189-92. doi: 10.1111/ped.12713. Epub 2015 Dec 2. Pediatr Int. 2015. PMID: 26627464

10

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: ohura 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

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

310 results

Search Page