遅く診断された乳児ポンペ病における短期集中アバルグルコシダゼアルファレジメント:症例報告

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Updated: May 13, 2026

Improving IV Insulin Administration in a Community Hospital
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Improving IV Insulin Administration in a Community Hospital

Published on: June 11, 2012

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Vincenza Gragnaniello1, Alice Pozza2, Chiara Cazzorla1

  • 1Division of Inherited Metabolic Diseases, Department of Woman's and Child's Health, University Hospital of Padua, Via Giustiniani 2, 35128 Padua, Italy.

Reports (MDPI)
|February 20, 2026
PubMed
まとめ

アヴァルグルコシダゼアルファ (40 mg/kg) の高用量週1回の投与が2ヶ月間行われ,重度のポムペ病の乳児発症患者の有意な改善を示した. この短期間の集中治療は安全で効果があり,正常な発達につながりました.

キーワード:
ポンペ病はポンペ病である.アバルグルコシダゼアルファは酵素代用療法による酵素代用療法高用量療法による高用量療法ハイパートロフィック心筋病変症ヒポトニア・ヒポトニア

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