Tsuchiya S - 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: tsuchiya s. 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

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: tsuchiya s. 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

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: tsuchiya s. 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

Two novel mutations in the lactase gene in a Japanese infant with congenital lactase deficiency.

Uchida N, Sakamoto O, Irie M, Abukawa D, Takeyama J, Kure S, Tsuchiya S. Uchida N, et al. Among authors: tsuchiya s. Tohoku J Exp Med. 2012 May;227(1):69-72. doi: 10.1620/tjem.227.69. Tohoku J Exp Med. 2012. PMID: 22688420 Free article.

5

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: tsuchiya s. 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

6

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: tsuchiya s. 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

7

Unusual ribbon-like periventricular heterotopia with congenital cataracts in a Japanese girl.

Tsuburaya R, Uematsu M, Kikuchi A, Hino-Fukuyo N, Kunishima S, Kato M, Haginoya K, Tsuchiya S. Tsuburaya R, et al. Among authors: tsuchiya s. Am J Med Genet A. 2012 Mar;158A(3):674-7. doi: 10.1002/ajmg.a.34258. Epub 2012 Feb 7. Am J Med Genet A. 2012. PMID: 22315185

8

Effect of a blackout in pediatric patients with home medical devices during the 2011 eastern Japan earthquake.

Nakayama T, Tanaka S, Uematsu M, Kikuchi A, Hino-Fukuyo N, Morimoto T, Sakamoto O, Tsuchiya S, Kure S. Nakayama T, et al. Among authors: tsuchiya s. Brain Dev. 2014 Feb;36(2):143-7. doi: 10.1016/j.braindev.2013.02.001. Epub 2013 Feb 26. Brain Dev. 2014. PMID: 23452913

9

[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: tsuchiya s. No To Hattatsu. 2010 Jan;42(1):45-9. No To Hattatsu. 2010. PMID: 23858612 Japanese.

10

Allelic and non-allelic heterogeneities in pyridoxine dependent seizures revealed by ALDH7A1 mutational analysis.

Kanno J, Kure S, Narisawa A, Kamada F, Takayanagi M, Yamamoto K, Hoshino H, Goto T, Takahashi T, Haginoya K, Tsuchiya S, Baumeister FA, Hasegawa Y, Aoki Y, Yamaguchi S, Matsubara Y. Kanno J, et al. Among authors: tsuchiya s. Mol Genet Metab. 2007 Aug;91(4):384-9. doi: 10.1016/j.ymgme.2007.02.010. Epub 2007 Apr 11. Mol Genet Metab. 2007. PMID: 17433748

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