Masahisa Kobayashi 研究室

AI 要約（直近 5 年の研究成果）

※ AI（Claude）が、公開されている論文要旨から研究の問い・手法・主要な発見を事実情報として抽出・再構成して自動生成しています。誤りを含む可能性があるため、正確性は研究室公式情報でご確認ください。

研究成果（18 件）

• [2026] A case of cystic hygroma with confined placental mosaicism of tetraploidy leading to noonan syndrome
  DOI: https://doi.org/10.1016/j.tjog.2026.03.023
• [2026] Termination of the trial due to inadequate enrollment: PPROM-AZM study
• [2026] Biochemical and enzymatic evaluation on the clinical efficacy of migalastat for Fabry disease
  DOI: https://doi.org/10.1016/j.ymgme.2025.109505
• [2025] Long-Term Outcomes of Early Enzyme Replacement Therapy With Asfotase Alfa in Perinatal Benign Hypophosphatasia: Amelioration of Bone Deformities in a Young Child
  DOI: https://doi.org/10.7759/cureus.78473
• [2025] Magnetic resonance imaging morphological features of the cisternal segment of the trigeminal nerve in Fabry disease
  DOI: https://doi.org/10.1007/s00234-025-03720-z
• [2025] Clinical evaluation of migalastat in the correlation between plasma Lyso−Gb3 level and enzyme activity increase on in vitro assay in Fabry disease patients
  DOI: https://doi.org/10.1016/j.ymgme.2024.108803
• [2025] A prenatally diagnosed Klinefelter syndrome case of 46,XX/47,XXY mosaicism with partial deletion of Y chromosome
  DOI: https://doi.org/10.1016/j.tjog.2024.12.030
• [2025] Exploring the burdens of women living with Fabry disease in Japan: A patient survey of 62 respondents
  DOI: https://doi.org/10.1016/j.ymgmr.2025.101231
• [2024] Role of Longitudinal Strain in the Evaluation of Contractile Dysfunction in Japanese Fabry Disease Patients
  DOI: https://doi.org/10.1253/circj.cj-24-0509
• [2024] Rescue from sudden ventricular tachycardia and fibrillation using wearable cardioverter-defibrillator in male late-onset Fabry disease patient
  DOI: https://doi.org/10.1016/j.jccase.2024.11.004

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