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2,117 results
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Fabry-database.org: database of the clinical phenotypes, genotypes and mutant α-galactosidase A structures in Fabry disease.
Saito S, Ohno K, Sakuraba H. Saito S, et al. Among authors: ohno k. J Hum Genet. 2011 Jun;56(6):467-8. doi: 10.1038/jhg.2011.31. Epub 2011 Mar 17. J Hum Genet. 2011. PMID: 21412250
Database of the clinical phenotypes, genotypes and mutant arylsulfatase B structures in mucopolysaccharidosis type VI.
Saito S, Ohno K, Sekijima M, Suzuki T, Sakuraba H. Saito S, et al. Among authors: ohno k. J Hum Genet. 2012 Apr;57(4):280-2. doi: 10.1038/jhg.2012.6. Epub 2012 Feb 16. J Hum Genet. 2012. PMID: 22336888
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: ohno k. Gene. 2014 Jan 25;534(2):144-54. doi: 10.1016/j.gene.2013.11.003. Epub 2013 Nov 16. Gene. 2014. PMID: 24252386
Fabry disease in a Japanese population-molecular and biochemical characteristics.
Sakuraba H, Tsukimura T, Togawa T, Tanaka T, Ohtsuka T, Sato A, Shiga T, Saito S, Ohno K. Sakuraba H, et al. Among authors: ohno k. Mol Genet Metab Rep. 2018 Oct 26;17:73-79. doi: 10.1016/j.ymgmr.2018.10.004. eCollection 2018 Dec. Mol Genet Metab Rep. 2018. PMID: 30386727 Free PMC article.
Plasma mutant α-galactosidase A protein and globotriaosylsphingosine level in Fabry disease.
Tsukimura T, Nakano S, Togawa T, Tanaka T, Saito S, Ohno K, Shibasaki F, Sakuraba H. Tsukimura T, et al. Among authors: ohno k. Mol Genet Metab Rep. 2014 Aug 2;1:288-298. doi: 10.1016/j.ymgmr.2014.07.005. eCollection 2014. Mol Genet Metab Rep. 2014. PMID: 27896103 Free PMC article.
Molecular diagnosis of 65 families with mucopolysaccharidosis type II (Hunter syndrome) characterized by 16 novel mutations in the IDS gene: Genetic, pathological, and structural studies on iduronate-2-sulfatase.
Kosuga M, Mashima R, Hirakiyama A, Fuji N, Kumagai T, Seo JH, Nikaido M, Saito S, Ohno K, Sakuraba H, Okuyama T. Kosuga M, et al. Among authors: ohno k. Mol Genet Metab. 2016 Jul;118(3):190-7. doi: 10.1016/j.ymgme.2016.05.003. Epub 2016 May 7. Mol Genet Metab. 2016. PMID: 27246110
Chaperone therapy for Krabbe disease: potential for late-onset GALC mutations.
Hossain MA, Higaki K, Saito S, Ohno K, Sakuraba H, Nanba E, Suzuki Y, Ozono K, Sakai N. Hossain MA, et al. Among authors: ohno k. J Hum Genet. 2015 Sep;60(9):539-45. doi: 10.1038/jhg.2015.61. Epub 2015 Jun 25. J Hum Genet. 2015. PMID: 26108143
Structural bases of Wolman disease and cholesteryl ester storage disease.
Saito S, Ohno K, Suzuki T, Sakuraba H. Saito S, et al. Among authors: ohno k. Mol Genet Metab. 2012 Feb;105(2):244-8. doi: 10.1016/j.ymgme.2011.11.004. Epub 2011 Nov 20. Mol Genet Metab. 2012. PMID: 22138108
Molecular interaction of imino sugars with human alpha-galactosidase: Insight into the mechanism of complex formation and pharmacological chaperone action in Fabry disease.
Sugawara K, Tajima Y, Kawashima I, Tsukimura T, Saito S, Ohno K, Iwamoto K, Kobayashi T, Itoh K, Sakuraba H. Sugawara K, et al. Among authors: ohno k. Mol Genet Metab. 2009 Apr;96(4):233-8. doi: 10.1016/j.ymgme.2008.12.017. Epub 2009 Jan 31. Mol Genet Metab. 2009. PMID: 19181556
Structural modeling of mutant alpha-glucosidases resulting in a processing/transport defect in Pompe disease.
Sugawara K, Saito S, Sekijima M, Ohno K, Tajima Y, Kroos MA, Reuser AJ, Sakuraba H. Sugawara K, et al. Among authors: ohno k. J Hum Genet. 2009 Jun;54(6):324-30. doi: 10.1038/jhg.2009.32. Epub 2009 Apr 3. J Hum Genet. 2009. PMID: 19343043
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