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Updated: Sep 8, 2025

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
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後期発症ポンプ病の新生児検診の感情的・実用的な課題を把握する:親の視点からの洞察

Myriam Boueri1, Allison Paltzer2, Erin Huggins1

  • 1Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, North Carolina.

Pediatric neurology
|September 5, 2025
PubMed
まとめ

ポンペ病 (PD) の新生児のスクリーニングは遅発の症例を特定しますが,親にはより良いサポートと医療専門家の教育が必要です. コミュニケーションとリソースの改善は 診断後の家族にとって 移行を容易にするでしょう

キーワード:
遺伝子カウンセリング医療従事者後期発症したポンペ病新生児のスクリーニング親 の 経験

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