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Brain and Nerve = Shinkei Kenkyu No Shinpo|October 7, 2024
[Pharmacological Chaperone Therapy for Fabry Disease]Masahisa Kobayashi
Pediatric Neurosurgery|May 11, 2012
Myeloschisis repair in a premature neonate with a birth weight of 599 gShizuo Oi, Tomoru Miwa, Masahisa Kobayashi, et al.
Molecular Genetics and Metabolism|August 3, 2013
Enzyme replacement therapy in two Japanese siblings with Fabry disease, and its effectiveness on angiokeratoma and neuropathic painMahoko Furujo, Toshihide Kubo, Masahisa Kobayashi, et al.
NDT Plus|May 19, 2015
Coincidental finding of Fabry's disease in a patient with IgA nephropathyTomoko Kakita, Katsuyuki Nagatoya, Tatsuhiko Mori, et al.
Journal of Human Genetics|April 17, 2019
Mutation spectrum of α-Galactosidase gene in Japanese patients with Fabry diseaseMasahisa Kobayashi, Toya Ohashi, Eiko Kaneshiro, et al.
Molecular Genetics and Metabolism Reports|June 16, 2025
Exploring the burdens of women living with Fabry disease in Japan: A patient survey of 62 respondentsMasahisa Kobayashi, Ikuko Kaku, Nanae Goto, et al.
Cureus|March 7, 2025
Long-Term Outcomes of Early Enzyme Replacement Therapy With Asfotase Alfa in Perinatal Benign Hypophosphatasia: Amelioration of Bone Deformities in a Young ChildShuntaro Terayama, Masahisa Kobayashi, Tokumasa Suemitsu, et al.
Molecular Genetics and Metabolism Reports|July 28, 2020
Massive accumulation of globotriaosylceramide in various tissues from a Fabry patient with a high antibody titer against alpha-galactosidase A after 6 years of enzyme replacement therapyKenichi Hongo, Toru Harada, Eiko Fukuro, et al.
Taiwanese Journal of Obstetrics & Gynecology|June 26, 2026
A case of cystic hygroma with confined placental mosaicism of tetraploidy leading to noonan syndromeYuki Ito, Ken Takahashi, Erina Nagao, et al.
Clinical and Experimental Nephrology|September 29, 2005
Significance of screening for Fabry disease among male dialysis patientsMayuri Ichinose, Masaaki Nakayama, Toya Ohashi, et al.
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