Matsubara Y - Search Results

1

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: matsubara y. Mol Genet Metab. 2004 Apr;81(4):335-42. doi: 10.1016/j.ymgme.2004.01.003. Mol Genet Metab. 2004. PMID: 15059621

2

Genetic testing of glycogen storage disease type Ib in Japan: five novel G6PT1 mutations and a rapid detection method for a prevalent mutation W118R.

Kojima K, Kure S, Kamada F, Hao K, Ichinohe A, Sato K, Aoki Y, Yoichi S, Kubota M, Horikawa R, Utsumi A, Miura M, Ogawa S, Kanazawa M, Kohno Y, Inokuchi M, Hasegawa T, Narisawa K, Matsubara Y. Kojima K, et al. Among authors: matsubara y. Mol Genet Metab. 2004 Apr;81(4):343-6. doi: 10.1016/j.ymgme.2003.12.004. Mol Genet Metab. 2004. PMID: 15059622

3

Mutation analysis of the MMAA and MMAB genes in Japanese patients with vitamin B(12)-responsive methylmalonic acidemia: identification of a prevalent MMAA mutation.

Yang X, Sakamoto O, Matsubara Y, Kure S, Suzuki Y, Aoki Y, Suzuki Y, Sakura N, Takayanagi M, Iinuma K, Ohura T. Yang X, et al. Among authors: matsubara y. Mol Genet Metab. 2004 Aug;82(4):329-33. doi: 10.1016/j.ymgme.2004.05.002. Mol Genet Metab. 2004. PMID: 15308131

4

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: matsubara y. 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

5

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: matsubara y. 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

6

Simple and rapid genetic testing for citrin deficiency by screening 11 prevalent mutations in SLC25A13.

Kikuchi A, Arai-Ichinoi N, Sakamoto O, Matsubara Y, Saheki T, Kobayashi K, Ohura T, Kure S. Kikuchi A, et al. Among authors: matsubara y. Mol Genet Metab. 2012 Apr;105(4):553-8. doi: 10.1016/j.ymgme.2011.12.024. Epub 2012 Jan 8. Mol Genet Metab. 2012. PMID: 22277121

7

Molecular analysis of Japanese patients with steroid 21-hydroxylase deficiency.

Asanuma A, Ohura T, Ogawa E, Sato S, Igarashi Y, Matsubara Y, Iinuma K. Asanuma A, et al. Among authors: matsubara y. J Hum Genet. 1999;44(5):312-7. doi: 10.1007/s100380050167. J Hum Genet. 1999. PMID: 10496074

8

Glycogen storage disease type Ia: molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells.

Akanuma J, Nishigaki T, Fujii K, Matsubara Y, Inui K, Takahashi K, Kure S, Suzuki Y, Ohura T, Miyabayashi S, Ogawa E, Iinuma K, Okada S, Narisawa K. Akanuma J, et al. Among authors: matsubara y. Am J Med Genet. 2000 Mar 13;91(2):107-12. Am J Med Genet. 2000. PMID: 10748407

9

Heterogeneous mutations in the glucose-6-phosphatase gene in Japanese patients with glycogen storage disease type Ia.

Takahashi K, Akanuma J, Matsubara Y, Fujii K, Kure S, Suzuki Y, Wataya K, Sakamoto O, Aoki Y, Ogasawara M, Ohura T, Miyabayashi S, Narisawa K. Takahashi K, et al. Among authors: matsubara y. Am J Med Genet. 2000 May 15;92(2):90-4. Am J Med Genet. 2000. PMID: 10797430

10

Haplotype analysis suggests that the two predominant mutations in Japanese patients with holocarboxylase synthetase deficiency are founder mutations.

Yang X, Aoki Y, Li X, Sakamoto O, Hiratsuka M, Gibson KM, Kure S, Narisawa K, Matsubara Y, Suzuki Y. Yang X, et al. Among authors: matsubara y. J Hum Genet. 2000;45(6):358-62. doi: 10.1007/s100380070008. J Hum Genet. 2000. PMID: 11185745

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