Sakai N - Search Results

1

Open-label clinical trial of bezafibrate treatment in patients with fatty acid oxidation disorders in Japan.

Yamada K, Shiraishi H, Oki E, Ishige M, Fukao T, Hamada Y, Sakai N, Ochi F, Watanabe A, Kawakami S, Kuzume K, Watanabe K, Sameshima K, Nakamagoe K, Tamaoka A, Asahina N, Yokoshiki S, Miyakoshi T, Ono K, Oba K, Isoe T, Hayashi H, Yamaguchi S, Sato N. Yamada K, et al. Among authors: sakai n. Mol Genet Metab Rep. 2018 Feb 22;15:55-63. doi: 10.1016/j.ymgmr.2018.02.003. eCollection 2018 Jun. Mol Genet Metab Rep. 2018. PMID: 29552494 Free PMC article.

2

Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation.

Otomo T, Muramatsu T, Yorifuji T, Okuyama T, Nakabayashi H, Fukao T, Ohura T, Yoshino M, Tanaka A, Okamoto N, Inui K, Ozono K, Sakai N. Otomo T, et al. Among authors: sakai n. J Hum Genet. 2009 Mar;54(3):145-51. doi: 10.1038/jhg.2009.3. Epub 2009 Feb 6. J Hum Genet. 2009. PMID: 19197337

3

Localized donor cells in brain of a Hunter disease patient after cord blood stem cell transplantation.

Araya K, Sakai N, Mohri I, Kagitani-Shimono K, Okinaga T, Hashii Y, Ohta H, Nakamichi I, Aozasa K, Taniike M, Ozono K. Araya K, et al. Among authors: sakai n. Mol Genet Metab. 2009 Nov;98(3):255-63. doi: 10.1016/j.ymgme.2009.05.006. Epub 2009 May 24. Mol Genet Metab. 2009. PMID: 19556155

4

Inhibition of autophagosome formation restores mitochondrial function in mucolipidosis II and III skin fibroblasts.

Otomo T, Higaki K, Nanba E, Ozono K, Sakai N. Otomo T, et al. Among authors: sakai n. Mol Genet Metab. 2009 Dec;98(4):393-9. doi: 10.1016/j.ymgme.2009.07.002. Epub 2009 Jul 7. Mol Genet Metab. 2009. PMID: 19656701

5

Retrospective review of Japanese sudden unexpected death in infancy: the importance of metabolic autopsy and expanded newborn screening.

Yamamoto T, Tanaka H, Kobayashi H, Okamura K, Tanaka T, Emoto Y, Sugimoto K, Nakatome M, Sakai N, Kuroki H, Yamaguchi S, Matoba R. Yamamoto T, et al. Among authors: sakai n. Mol Genet Metab. 2011 Apr;102(4):399-406. doi: 10.1016/j.ymgme.2010.12.004. Epub 2010 Dec 14. Mol Genet Metab. 2011. PMID: 21227726

6

Long-term efficacy of hematopoietic stem cell transplantation on brain involvement in patients with mucopolysaccharidosis type II: a nationwide survey in Japan.

Tanaka A, Okuyama T, Suzuki Y, Sakai N, Takakura H, Sawada T, Tanaka T, Otomo T, Ohashi T, Ishige-Wada M, Yabe H, Ohura T, Suzuki N, Kato K, Adachi S, Kobayashi R, Mugishima H, Kato S. Tanaka A, et al. Among authors: sakai n. Mol Genet Metab. 2012 Nov;107(3):513-20. doi: 10.1016/j.ymgme.2012.09.004. Epub 2012 Sep 7. Mol Genet Metab. 2012. PMID: 23022072

7

Microdeletions of 3p21.31 characterized by developmental delay, distinctive features, elevated serum creatine kinase levels, and white matter involvement.

Eto K, Sakai N, Shimada S, Shioda M, Ishigaki K, Hamada Y, Shinpo M, Azuma J, Tominaga K, Shimojima K, Ozono K, Osawa M, Yamamoto T. Eto K, et al. Among authors: sakai n. Am J Med Genet A. 2013 Dec;161A(12):3049-56. doi: 10.1002/ajmg.a.36156. Epub 2013 Aug 16. Am J Med Genet A. 2013. PMID: 24039031

8

Late-onset Krabbe disease is predominant in Japan and its mutant precursor protein undergoes more effective processing than the infantile-onset form.

Hossain MA, Otomo T, Saito S, Ohno K, Sakuraba H, Hamada Y, Ozono K, Sakai N. Hossain MA, et al. Among authors: sakai n. Gene. 2014 Jan 25;534(2):144-54. doi: 10.1016/j.gene.2013.11.003. Epub 2013 Nov 16. Gene. 2014. PMID: 24252386

9

Adult-onset Krabbe disease presenting as acute hemiparesis and progressive demyelination detected by diffusion-weighted imaging.

Mamada N, Nakamagoe K, Shioya A, Furuta J, Sakai N, Ishii A, Tamaoka A. Mamada N, et al. Among authors: sakai n. J Neurol Sci. 2016 Aug 15;367:326-8. doi: 10.1016/j.jns.2016.06.026. Epub 2016 Jun 11. J Neurol Sci. 2016. PMID: 27423612 No abstract available.

10

Mutation in VPS33A affects metabolism of glycosaminoglycans: a new type of mucopolysaccharidosis with severe systemic symptoms.

Kondo H, Maksimova N, Otomo T, Kato H, Imai A, Asano Y, Kobayashi K, Nojima S, Nakaya A, Hamada Y, Irahara K, Gurinova E, Sukhomyasova A, Nogovicina A, Savvina M, Yoshimori T, Ozono K, Sakai N. Kondo H, et al. Among authors: sakai n. Hum Mol Genet. 2017 Jan 1;26(1):173-183. doi: 10.1093/hmg/ddw377. Hum Mol Genet. 2017. PMID: 28013294

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