Ohura T - Search Results

1

A further case of renal tubular dysgenesis surviving the neonatal period.

Uematsu M, Sakamoto O, Ohura T, Shimizu N, Satomura K, Tsuchiya S. Uematsu M, et al. Among authors: ohura t. Eur J Pediatr. 2009 Feb;168(2):207-9. doi: 10.1007/s00431-008-0743-9. Epub 2008 May 14. Eur J Pediatr. 2009. PMID: 18478260

2

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

3

A novel inborn error of metabolism detected by elevated methionine and/or galactose in newborn screening: neonatal intrahepatic cholestasis caused by citrin deficiency.

Ohura T, Kobayashi K, Abukawa D, Tazawa Y, Aikawa J, Sakamoto O, Saheki T, Iinuma K. Ohura T, et al. Eur J Pediatr. 2003 May;162(5):317-22. doi: 10.1007/s00431-003-1171-5. Epub 2003 Feb 27. Eur J Pediatr. 2003. PMID: 12692712

4

An atypical case of abetalipoproteinaemia with severe fatty liver in the absence of steatorrhoea or acanthocytosis.

Sakamoto O, Abukawa D, Takeyama J, Arai N, Nagano M, Hattori H, Egashira T, Sakai N, Yamashita S, Iinuma K, Ohura T. Sakamoto O, et al. Among authors: ohura t. Eur J Pediatr. 2006 Jan;165(1):68-70. doi: 10.1007/s00431-005-1751-7. Epub 2005 Sep 6. Eur J Pediatr. 2006. PMID: 16143868 No abstract available.

5

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

6

[High dose of enzyme replacement therapy was successful for the pulmonary involvement in a case of type 2 Gaucher disease].

Arai N, Uematsu M, Abe Y, Fukuyo N, Wakusawa K, Kikuchi A, Sakamoto O, Ohura T, Tsuchiya S. Arai N, et al. Among authors: ohura t. No To Hattatsu. 2010 Jan;42(1):45-9. No To Hattatsu. 2010. PMID: 23858612 Japanese.

7

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

8

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

9

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

10

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

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