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| 「寄付講座 臨床遺伝学研究室」の研究業績のデータです。 |
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[ 論 文 ]
| 1. |
Tsuji D., Akeboshi H., Matsuoka K., Yasuoka H., Miyasaki E., Kasahara Y., Kawashima I., Chiba Y., Jigami Y., Taki T., Sakuraba H., Itoh K.: Highly phosphomannosylated enzyme replacement therapy for GM2 gangliosidosis. Ann. Neurol., 69: 691-701, 2011.
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| 2. |
Onoue K., Zaima N., Sugiura Y., Isojima T., Okayama S., Horii M., Akai Y., Uemura S., Takemura G., Sakuraba H., Sakaguchi Y., Setou M., Saito Y.: Using imaging mass spectrometry to accurately diagnose Fabry's disease. Circ. J., 75: 221-223, 2011.
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| 3. |
Tsukimura T., Chiba Y., Ohno K., Saito S., Tajima Y., Sakuraba H.: Molecular mechanism for stabilization of a mutant α-galactosidase A involving M51I amino acid substitution by imino sugars. Mol. Genet. Metab., 103: 26-32, 2011.
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| 4. |
Matsuoka K., Tamura T., Tsuji D., Dohzono Y., Kitakaze K., Ohno K., Saito S., Sakuraba H., Itoh K.: Therapeutic potential of intracerebroventricular replacement of modified human β-hexosaminidase B for GM2 gangliosidosis. Mol. Ther., 19: 1017-1024, 2011.
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| 5. |
Saito S., Ohno K., Sakuraba H.: Fabry-database.org: database of the clinical phenotypes, genotypes and mutant α-galactosidase A structures in Fabry disease. J. Hum. Genet., 56: 467-468, 2011.
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| 6. |
Tajima Y., Saito S., Ohno K., Tsukimura T., Tsujino S., Sakuraba H.: Biochemical and structural study on a S529V mutant acid α-glucosidase responsive to pharmacological chaperones. J. Hum. Genet., 56: 440-446, 2011.
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| 7. |
Kodama T., Togawa T., Tsukimura T., Kawashima I., Matsuoka K., Kitakaze K., Tsuji D., Itoh K., Ishida Y., Suzuki M., Suzuki T., Sakuraba H.: Lyso-GM2 ganglioside: A possible biomarker of Tay-Sachs disease and Sandhoff disease. PLoS ONE., 6: e29074, 2011.
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