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Structural basis of the GM2 gangliosidosis B variant.
Matsuzawa F, Aikawa S, Sakuraba H, Lan HT, Tanaka A, Ohno K, Sugimoto Y, Ninomiya H, Doi H. Matsuzawa F, et al. Among authors: ninomiya h. J Hum Genet. 2003;48(11):582-9. doi: 10.1007/s10038-003-0082-7. Epub 2003 Oct 24. J Hum Genet. 2003. PMID: 14577003
New GAA mutations in Japanese patients with GSDII (Pompe disease).
Pipo JR, Feng JH, Yamamoto T, Ohsaki Y, Nanba E, Tsujino S, Sakuragawa N, Martiniuk F, Ninomiya H, Oka A, Ohno K. Pipo JR, et al. Among authors: ninomiya h. Pediatr Neurol. 2003 Oct;29(4):284-7. doi: 10.1016/s0887-8994(03)00267-4. Pediatr Neurol. 2003. PMID: 14643388
N-octyl-beta-valienamine up-regulates activity of F213I mutant beta-glucosidase in cultured cells: a potential chemical chaperone therapy for Gaucher disease.
Lin H, Sugimoto Y, Ohsaki Y, Ninomiya H, Oka A, Taniguchi M, Ida H, Eto Y, Ogawa S, Matsuzaki Y, Sawa M, Inoue T, Higaki K, Nanba E, Ohno K, Suzuki Y. Lin H, et al. Among authors: ninomiya h. Biochim Biophys Acta. 2004 Aug 4;1689(3):219-28. doi: 10.1016/j.bbadis.2004.03.007. Biochim Biophys Acta. 2004. PMID: 15276648 Free article.
799 results