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Updated: Sep 10, 2025

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

Published on: December 20, 2017

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遅発のポンペ病の治療のための酵素置換療法:体系的なレビューとネットワークメタ解析

Mark Corbett1, Chinyereugo Umemneku-Chikere1, Sarah Nevitt1

  • 1Centre for Reviews and Dissemination, University of York, York, UK.

Orphanet journal of rare diseases
|August 22, 2025
PubMed
まとめ

酵素置換療法 (ERT) は,遅発のポンペ病 (LOPD) の患者で,わずか6分の歩行距離の改善をもたらす. しかし,限られたデータでは,ERT間の有意な結果の差はほとんどなく,さらなる長期的な研究が必要である.

キーワード:
酵素置換療法グライコゲン貯蔵症II型人間ネットワークメタ解析

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Neurodegenerative disorders, such as Parkinson's Disease (PD), involve the gradual and irreversible destruction of neurons in particular brain areas. These disorders exhibit standard features like proteinopathies, selective vulnerability of some neurons, and an interaction of intrinsic properties, genetics, and environmental influences in neural injury.
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Positive inotropic agents are commonly used as the first line of treatment for heart failure. One such agent is digoxin, derived from the genus Digitalis, which has been known for centuries but effectively utilized since 1785. However, these cardiac glycosides can have potentially toxic effects due to their mechanism of action, which involves inhibiting Na+/K+-ATPase and increasing contractility. Digoxin is absorbed orally and distributed in various tissues, including the CNS. It has a long...
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