Osaka University · Faculty of Medicine / Graduate School of Medical Sciences

Research keywordsosteogenesis imperfecta・hypophosphatasia・achondroplasia・hypoparathyroidism・progeria・skeletal dysplasia・bisphosphonate therapy・enzyme replacement therapy

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• Clinical and Genetic Characterization of Osteogenesis Imperfecta in Japanese Patients: Outcomes of Sequential Bisphosphonate Therapy.2026 · Calcified tissue international Vol. 117 No. 1 2026年4月27日 研究論文（学術雑誌）
• NEFL is associated with inhibition of odontoblastic process in odontohypophosphatasia.2026 · Journal of bone and mineral metabolism 2026年3月14日 研究論文（学術雑誌）
• Characterization of a Novel Col1a1G643S/+ Osteogenesis Imperfecta Mouse Model with Insights into Skeletal Phenotype, Fragility, and Therapeutic Evaluations2025 · Calcified Tissue International Vol. 116 No. 1 2025年1月3日 研究論文（学術雑誌）
• Vitamin B6 Status in Hypophosphatasia: Association With Clinical Severity, Diagnostic Utility, and Effects on Vitamin B6 Metabolism by Supplementation and Enzyme Replacement Therapy2025 · Journal of Inherited Metabolic Disease Vol. 48 No. 3 2025年5月19日 研究論文（学術雑誌）

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