「寄付講座 臨床遺伝学研究室」の研究業績のデータです。 [ 論　文 ] 1. Takahashi N., Yokoi S., Kasuno K., Kogami A., Tsukimura T., Togawa T., Saito S., Ohno K., Hara M., Kurosawa H., Hirayama Y., Kurose T., Yokoyama Y., Mikami D., Kimura H., Naiki H., Sakuraba H., Iwano M.: A heterozygous female with Fabry disease due to a novel α -galactosidase A mutation exhibits a unique synaptopodin distribution in vacuolated podocytes. Clin. Nephrol., 83: 301-308. 2015. 2. Sakuraba H., Tsukimura T., Tanaka T., Togawa T., Takahashi N., Mikami D., Wakai S., Akai Y.: Clinical and biochemical investigation of male patients exhibiting membranous cytoplasmic bodies in biopsied kidney tissues - A pitfall in diagnosis of Fabry disease. J . Nephropathol., 4: 91-96, 2015. 3. Hossain M. A., Higaki K., Saito S., Ohno K., Sakuraba H., Nanba E., Suzuki Y., Ozono K., Sakai N.: Chaperone therapy for Krabbe disease: potential for late-onset GALC mutations. J. Hum. Genet., 60: 539-545. 4. Sueoka H., Ichihara J., Tsukimura T., Togawa T., Sakuraba H.: Nano-LC-MS/MS for quantification of Lyso-Gb3 and its analogues reveals a useful biomarker for Fabry disease. PLOS ONE, 10: e0127048, 2015. 5. Nakano S., Tsukimura T., Togawa T., Ohashi T., Kobayashi M., Takayama K., Kobayashi Y., Abiko H., Satou M., Nakahata T., Warnock D. G., Sakuraba H., Shibasaki F.: Rapid immunochromatographic detection of serum α-galactosidase A antibodies in Fabry patients after enzyme replacement therapy. PLOS ONE, 10: e0128351, 2015. 6. Serebrinsky G., Calvo M., Fernandez S., Saito S., Ohno K., Wallace E., Warnock D., Sakuraba H., Politei J.: Late onset variants in Fabry disease: results in high risk population screenings in Argentina. Mol. Genet. Metab. Reports, 4: 19-24, 2015. 7. Sueoka H., Aoki M., Tsukimura T., Togawa T., Sakuraba H:. Distributions of globotriaosylceramide isoforms, and globotriaosylsphingosine and its analogues in an α-galactosidase A knockout mouse, a model of Fabry disease. PLOS ONE, 10: e0144958, 2015.