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Orphanet Journal of Rare Diseases|July 4, 2026
Patient-driven surveys of mucopolysaccharidoses revealed patient-reported outcomes in the Japan MPS patient and family groupToko Shibuya, Takeyuki Akiyama, Tetsuji Fujiyama, et al.
International Journal of Molecular Sciences|July 12, 2025
Cellular Lyso-Gb3 Is a Biomarker for Mucolipidosis IISeigo Terawaki, Hiroki Nakanishi, Toko Shibuya, et al.
Internal Medicine (Tokyo, Japan)|November 16, 2020
Adult Krabbe Disease That Was Successfully Treated with Intravenous ImmunoglobulinRyosuke Fukazawa, Hiroki Takeuchi, Nobuyuki Oka, et al.
Case Reports in Ophthalmology|August 11, 2020
Galactosialidosis Type IIb with Bilateral Macular Cherry-Red Spots but Mild DysfunctionHanon Fukuyo, Yuji Inoue, Hidenori Takahashi, et al.
Brain & Development|May 9, 2021
Mucolipidosis Ⅱ and III with neurological symptoms due to spinal cord compressionSachiko Nakaoka, Hidehito Kondo, Keiko Matsuoka, et al.
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