Suzuki Y - Search Results

1

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: suzuki y. Am J Med Genet. 2000 May 15;92(2):90-4. Am J Med Genet. 2000. PMID: 10797430

2

Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11.

Kure S, Suzuki Y, Matsubara Y, Sakamoto O, Shintaku H, Isshiki G, Hoshida C, Izumi I, Sakura N, Narisawa K. Kure S, et al. Among authors: suzuki y. Biochem Biophys Res Commun. 1998 Jul 20;248(2):426-31. doi: 10.1006/bbrc.1998.8985. Biochem Biophys Res Commun. 1998. PMID: 9675154

3

Identification and characterization of mutations in patients with holocarboxylase synthetase deficiency.

Aoki Y, Li X, Sakamoto O, Hiratsuka M, Akaishi H, Xu L, Briones P, Suormala T, Baumgartner ER, Suzuki Y, Narisawa K. Aoki Y, et al. Among authors: suzuki y. Hum Genet. 1999 Feb;104(2):143-8. doi: 10.1007/s004390050927. Hum Genet. 1999. PMID: 10190325

4

Glycogen storage disease type Ib: structural and mutational analysis of the microsomal glucose-6-phosphate transporter gene.

Hou DC, Kure S, Suzuki Y, Hasegawa Y, Hara Y, Inoue T, Kida Y, Matsubara Y, Narisawa K. Hou DC, et al. Among authors: suzuki y. Am J Med Genet. 1999 Sep 17;86(3):253-7. doi: 10.1002/(sici)1096-8628(19990917)86:3<253::aid-ajmg11>3.0.co;2-7. Am J Med Genet. 1999. PMID: 10482875

5

Mutation detection by TaqMan-allele specific amplification: application to molecular diagnosis of glycogen storage disease type Ia and medium-chain acyl-CoA dehydrogenase deficiency.

Fujii K, Matsubara Y, Akanuma J, Takahashi K, Kure S, Suzuki Y, Imaizumi M, Iinuma K, Sakatsume O, Rinaldo P, Narisawa K. Fujii K, et al. Among authors: suzuki y. Hum Mutat. 2000;15(2):189-96. doi: 10.1002/(SICI)1098-1004(200002)15:2<189::AID-HUMU8>3.0.CO;2-H. Hum Mutat. 2000. PMID: 10649496

6

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: suzuki y. Am J Med Genet. 2000 Mar 13;91(2):107-12. Am J Med Genet. 2000. PMID: 10748407

7

Glycogen storage disease type Ib without neutropenia.

Kure S, Hou DC, Suzuki Y, Yamagishi A, Hiratsuka M, Fukuda T, Sugie H, Kondo N, Matsubara Y, Narisawa K. Kure S, et al. Among authors: suzuki y. J Pediatr. 2000 Aug;137(2):253-6. doi: 10.1067/mpd.2000.107472. J Pediatr. 2000. PMID: 10931421

8

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: suzuki y. J Hum Genet. 2000;45(6):358-62. doi: 10.1007/s100380070008. J Hum Genet. 2000. PMID: 11185745

9

Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA.

Suzuki Y, Aoki Y, Ishida Y, Chiba Y, Iwamatsu A, Kishino T, Niikawa N, Matsubara Y, Narisawa K. Suzuki Y, et al. Nat Genet. 1994 Oct;8(2):122-8. doi: 10.1038/ng1094-122. Nat Genet. 1994. PMID: 7842009

10

Molecular analysis of holocarboxylase synthetase deficiency: a missense mutation and a single base deletion are predominant in Japanese patients.

Aoki Y, Suzuki Y, Sakamoto O, Li X, Takahashi K, Ohtake A, Sakuta R, Ohura T, Miyabayashi S, Narisawa K. Aoki Y, et al. Among authors: suzuki y. Biochim Biophys Acta. 1995 Dec 12;1272(3):168-74. doi: 10.1016/0925-4439(95)00082-8. Biochim Biophys Acta. 1995. PMID: 8541348 Free article.

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