Matsubara Y - Search Results

1

Guide for diagnosis and treatment of hyperphenylalaninemia.

Shintaku H, Ohura T, Takayanagi M, Kure S, Owada M, Matsubara Y, Yoshino M, Okano Y, Ito T, Okuyama T, Nakamura K, Matuo M, Endo F, Ida H. Shintaku H, et al. Among authors: matsubara y. Pediatr Int. 2021 Jan;63(1):8-12. doi: 10.1111/ped.14399. Epub 2021 Jan 10. Pediatr Int. 2021. PMID: 33423362

2

Long-term treatment and diagnosis of tetrahydrobiopterin-responsive hyperphenylalaninemia with a mutant phenylalanine hydroxylase gene.

Shintaku H, Kure S, Ohura T, Okano Y, Ohwada M, Sugiyama N, Sakura N, Yoshida I, Yoshino M, Matsubara Y, Suzuki K, Aoki K, Kitagawa T. Shintaku H, et al. Among authors: matsubara y. Pediatr Res. 2004 Mar;55(3):425-30. doi: 10.1203/01.PDR.0000111283.91564.7E. Epub 2003 Dec 17. Pediatr Res. 2004. PMID: 14681498

3

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: matsubara y. J Pediatr. 1999 Sep;135(3):375-8. doi: 10.1016/s0022-3476(99)70138-1. J Pediatr. 1999. PMID: 10484807

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: matsubara y. 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

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: matsubara y. Pediatr Int. 2015 Dec;57(6):1189-92. doi: 10.1111/ped.12713. Epub 2015 Dec 2. Pediatr Int. 2015. PMID: 26627464

6

Detection of single nucleotide substitution by competitive allele-specific short oligonucleotide hybridization (CASSOH) with immunochromatographic strip.

Matsubara Y, Kure S. Matsubara Y, et al. Hum Mutat. 2003 Aug;22(2):166-72. doi: 10.1002/humu.10247. Hum Mutat. 2003. PMID: 12872258

7

Ectopic transcription: an application to the analysis of splicing errors in phenylalanine hydroxylase mRNA.

Takahashi K, Masamune A, Kure S, Matsubara Y, Narisawa K. Takahashi K, et al. Among authors: matsubara y. Acta Paediatr Suppl. 1994 Dec;407:45-6. doi: 10.1111/j.1651-2227.1994.tb13449.x. Acta Paediatr Suppl. 1994. PMID: 7766957 No abstract available.

8

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: matsubara y. Pediatr Res. 1999 Apr;45(4 Pt 1):465-73. doi: 10.1203/00006450-199904010-00003. Pediatr Res. 1999. PMID: 10203136

9

Long-term correction of hyperphenylalaninemia by AAV-mediated gene transfer leads to behavioral recovery in phenylketonuria mice.

Mochizuki S, Mizukami H, Ogura T, Kure S, Ichinohe A, Kojima K, Matsubara Y, Kobayahi E, Okada T, Hoshika A, Ozawa K, Kume A. Mochizuki S, et al. Among authors: matsubara y. Gene Ther. 2004 Jul;11(13):1081-6. doi: 10.1038/sj.gt.3302262. Gene Ther. 2004. PMID: 15057263

10

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

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