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Updated: Feb 22, 2026

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
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新生児のスクリーニングで特定された遅発のポンペ病からの教訓: 体系的なレビュー

Myriam Boueri1, Jessica Doxey1, Tracy Boggs2

  • 1Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, United States.

Molecular genetics and metabolism
|February 20, 2026
PubMed
まとめ

遅発のポンペ病 (LOPD) に対する新生児スクリーニング (NBS) は,早期のフェノタイプと多様な臨床プレゼンテーションを明らかにします. 早期の酵素置換療法 (ERT) は,NBSで特定された乳幼児に有益であり,長期的なフォローアップと明確な治療ガイドラインの必要性を強調しています.

キーワード:
遅発のポンペ病は,ポンペ病の遅発である.新生児のスクリーニングシステマティック・レビュー システマティック・レビュー台湾 台湾 台湾 台湾アメリカ合衆国 アメリカ合衆国 アメリカ合衆国

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