Sakura N - Search Results

1

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: sakura n. Mol Genet Metab. 2004 Aug;82(4):329-33. doi: 10.1016/j.ymgme.2004.05.002. Mol Genet Metab. 2004. PMID: 15308131

2

Newborn screening for carnitine palmitoyltransferase II deficiency using (C16+C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity.

Tajima G, Hara K, Tsumura M, Kagawa R, Okada S, Sakura N, Maruyama S, Noguchi A, Awaya T, Ishige M, Ishige N, Musha I, Ajihara S, Ohtake A, Naito E, Hamada Y, Kono T, Asada T, Sasai H, Fukao T, Fujiki R, Ohara O, Bo R, Yamada K, Kobayashi H, Hasegawa Y, Yamaguchi S, Takayanagi M, Hata I, Shigematsu Y, Kobayashi M. Tajima G, et al. Among authors: sakura n. Mol Genet Metab. 2017 Nov;122(3):67-75. doi: 10.1016/j.ymgme.2017.07.011. Epub 2017 Jul 31. Mol Genet Metab. 2017. PMID: 28801073

3

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: sakura n. 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

4

Altered metabolisms of mediators controlling vascular function and enhanced oxidative stress in asymptomatic children with congenital portosystemic venous shunt.

Nagasaka H, Okano Y, Aizawa M, Miida T, Yorifuji T, Tajima G, Sakura N, Takatani T, Sanayama Y, Sugamoto K, Mayumi M, Kobayashi K, Hirano K, Takayanagi M, Tsukahara H. Nagasaka H, et al. Among authors: sakura n. Metabolism. 2010 Jan;59(1):107-13. doi: 10.1016/j.metabol.2009.07.013. Epub 2009 Sep 18. Metabolism. 2010. PMID: 19766269

5

Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan.

Hara K, Tajima G, Okada S, Tsumura M, Kagawa R, Shirao K, Ohno Y, Yasunaga S, Ohtsubo M, Hata I, Sakura N, Shigematsu Y, Takihara Y, Kobayashi M. Hara K, et al. Among authors: sakura n. Mol Genet Metab. 2016 May;118(1):9-14. doi: 10.1016/j.ymgme.2015.12.011. Epub 2015 Dec 29. Mol Genet Metab. 2016. PMID: 26947917

6

Screening of MCAD deficiency in Japan: 16years' experience of enzymatic and genetic evaluation.

Tajima G, Hara K, Tsumura M, Kagawa R, Okada S, Sakura N, Hata I, Shigematsu Y, Kobayashi M. Tajima G, et al. Among authors: sakura n. Mol Genet Metab. 2016 Dec;119(4):322-328. doi: 10.1016/j.ymgme.2016.10.007. Epub 2016 Oct 21. Mol Genet Metab. 2016. PMID: 27856190

7

Selective screening for fatty acid oxidation disorders by tandem mass spectrometry: difficulties in practical discrimination.

Shigematsu Y, Hirano S, Hata I, Tanaka Y, Sudo M, Tajima T, Sakura N, Yamaguchi S, Takayanagi M. Shigematsu Y, et al. Among authors: sakura n. J Chromatogr B Analyt Technol Biomed Life Sci. 2003 Jul 15;792(1):63-72. doi: 10.1016/s1570-0232(03)00281-2. J Chromatogr B Analyt Technol Biomed Life Sci. 2003. PMID: 12828998

8

Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications.

Yorifuji T, Kawai M, Muroi J, Mamada M, Kurokawa K, Shigematsu Y, Hirano S, Sakura N, Yoshida I, Kuhara T, Endo F, Mitsubuchi H, Nakahata T. Yorifuji T, et al. Among authors: sakura n. Hum Genet. 2002 Aug;111(2):161-5. doi: 10.1007/s00439-002-0761-z. Epub 2002 Jul 4. Hum Genet. 2002. PMID: 12189489

9

Novel mutation of methylmalonyl-CoA mutase gene causing the mut0 form of methylmalonic acidemia in a Japanese girl.

Oyama C, Takahashi T, Matsumori M, Shoji Y, Tajima G, Sakura N, Hasegawa Y, Yamaguchi S, Kakinuma H, Takada G. Oyama C, et al. Among authors: sakura n. Pediatr Int. 2007 Apr;49(2):232-4. doi: 10.1111/j.1442-200X.2007.02325.x. Pediatr Int. 2007. PMID: 17445044 No abstract available.

10

Effects of idursulfase enzyme replacement therapy for Mucopolysaccharidosis type II when started in early infancy: comparison in two siblings.

Tajima G, Sakura N, Kosuga M, Okuyama T, Kobayashi M. Tajima G, et al. Among authors: sakura n. Mol Genet Metab. 2013 Mar;108(3):172-7. doi: 10.1016/j.ymgme.2012.12.010. Epub 2013 Jan 9. Mol Genet Metab. 2013. PMID: 23375472

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