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A bicyclic 1-deoxygalactonojirimycin derivative as a novel pharmacological chaperone for GM1 gangliosidosis.
Takai T, Higaki K, Aguilar-Moncayo M, Mena-Barragán T, Hirano Y, Yura K, Yu L, Ninomiya H, García-Moreno MI, Sakakibara Y, Ohno K, Nanba E, Ortiz Mellet C, García Fernández JM, Suzuki Y. Takai T, et al. Among authors: higaki k. Mol Ther. 2013 Mar;21(3):526-32. doi: 10.1038/mt.2012.263. Epub 2013 Jan 22. Mol Ther. 2013. PMID: 23337983 Free PMC article.
NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C.
Yamamoto T, Nanba E, Ninomiya H, Higaki K, Taniguchi M, Zhang H, Akaboshi S, Watanabe Y, Takeshima T, Inui K, Okada S, Tanaka A, Sakuragawa N, Millat G, Vanier MT, Morris JA, Pentchev PG, Ohno K. Yamamoto T, et al. Among authors: higaki k. Hum Genet. 1999 Jul-Aug;105(1-2):10-6. doi: 10.1007/s004399900059. Hum Genet. 1999. PMID: 10480349
[Type A and B Niemann-Pick disease].
Higaki K, Ohno K. Higaki K, et al. Nihon Rinsho. 2001 Mar;59 Suppl 3:305-8. Nihon Rinsho. 2001. PMID: 11347081 Review. Japanese. No abstract available.
377 results