Fujii K - Search Results

1

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

2

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. 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

3

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

4

Wild-type phenylalanine hydroxylase activity is enhanced by tetrahydrobiopterin supplementation in vivo: an implication for therapeutic basis of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.

Kure S, Sato K, Fujii K, Aoki Y, Suzuki Y, Kato S, Matsubara Y. Kure S, et al. Among authors: fujii k. Mol Genet Metab. 2004 Sep-Oct;83(1-2):150-6. doi: 10.1016/j.ymgme.2004.06.016. Mol Genet Metab. 2004. PMID: 15464429

5

A fluorogenic allele-specific amplification method for DNA-based screening for inherited metabolic disorders.

Matsubara Y, Fujii K, Rinaldo P, Narisawa K. Matsubara Y, et al. Among authors: fujii k. Acta Paediatr Suppl. 1999 Dec;88(432):65-8. doi: 10.1111/j.1651-2227.1999.tb01162.x. Acta Paediatr Suppl. 1999. PMID: 10626583

6

Rapid detection of CYP2C18 genotypes by real-time fluorescence polymerase chain reaction.

Mizugaki M, Hiratsuka M, Agatsuma Y, Matsubara Y, Fujii K, Kure S, Narisawa K. Mizugaki M, et al. Among authors: fujii k. J Pharm Pharmacol. 2000 Feb;52(2):199-205. doi: 10.1211/0022357001773850. J Pharm Pharmacol. 2000. PMID: 10714950

7

Adenovirus-mediated in utero gene transfer in mice and guinea pigs: tissue distribution of recombinant adenovirus determined by quantitative TaqMan-polymerase chain reaction assay.

Senoo M, Matsubara Y, Fujii K, Nagasaki Y, Hiratsuka M, Kure S, Uehara S, Okamura K, Yajima A, Narisawa K. Senoo M, et al. Among authors: fujii k. Mol Genet Metab. 2000 Apr;69(4):269-76. doi: 10.1006/mgme.2000.2984. Mol Genet Metab. 2000. PMID: 10870844

8

Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia.

Niihori T, Aoki Y, Ohashi H, Kurosawa K, Kondoh T, Ishikiriyama S, Kawame H, Kamasaki H, Yamanaka T, Takada F, Nishio K, Sakurai M, Tamai H, Nagashima T, Suzuki Y, Kure S, Fujii K, Imaizumi M, Matsubara Y. Niihori T, et al. Among authors: fujii k. J Hum Genet. 2005;50(4):192-202. doi: 10.1007/s10038-005-0239-7. Epub 2005 Apr 15. J Hum Genet. 2005. PMID: 15834506

9

Reversal of hypopigmentation in phenylketonuria mice by adenovirus-mediated gene transfer.

Nagasaki Y, Matsubara Y, Takano H, Fujii K, Senoo M, Akanuma J, Takahashi K, Kure S, Hara M, Kanegae Y, Saito I, Narisawa K. Nagasaki Y, et al. Among authors: fujii k. Pediatr Res. 1999 Apr;45(4 Pt 1):465-73. doi: 10.1203/00006450-199904010-00003. Pediatr Res. 1999. PMID: 10203136

10

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.

Kure S, Hou DC, Ohura T, Iwamoto H, Suzuki S, Sugiyama N, Sakamoto O, Fujii K, Matsubara Y, Narisawa K. Kure S, et al. Among authors: fujii k. J Pediatr. 1999 Sep;135(3):375-8. doi: 10.1016/s0022-3476(99)70138-1. J Pediatr. 1999. PMID: 10484807

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