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Updated: Jul 25, 2026

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
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Published on: December 20, 2017

ラクトシルセラミドーシス:ラクトシルセラミドベータ-ガラクトシドーシスの2つの正常な活動

D A Wenger, M Sattler, C Clark

    Science (New York, N.Y.)
    |June 27, 1975
    PubMed
    まとめ

    ラクトソイルセラミドーシスフィブロブラストは,ラクトソイルセラミドベータ-ガラクトシダゼの正常な活性を示した. しかし,スフィンゴミエリンゼの活性が著しく低下し,別の根本的な酵素欠乏症を示唆しました.

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