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Updated: May 12, 2026

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
10:16

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

Published on: December 20, 2017

ファブリー病における酵素置換療法:ランダム化制御試験

R Schiffmann1, J B Kopp, H A Austin

  • 1Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, Bldg 10, Room 3D03, National Institutes of Health, 9000 Rockville Pike, Bethesda, MD 20892-1260, USA. rs4e@nih.gov

JAMA
|June 21, 2001
PubMed
まとめ

アルファ-ガラクトシダゼA (アルファ-ガルA) による酵素置換療法により,ファブリー病患者の神経疾患の痛みが著しく軽減され,腎臓機能が改善されました. この静脈内投与による治療は,このまれな代謝障害の管理に安全で効果的な選択肢を提供します.

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