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Updated: Sep 9, 2025

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
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マレーシアにおけるリソソマ貯蔵病 (LSD) の流行

A Omar1, S Abdul Rahman1, R Mohamed1

  • 1Inborn Errors of Metabolism & Genetics Unit, NMCRC, Institute for Medical Research, National Institutes of Health (NIH), Ministry of Health Malaysia, Selangor, Malaysia.

The Malaysian journal of pathology
|August 29, 2025
PubMed
まとめ

この研究は,マレーシアにおけるリソソーム貯蔵障害 (LSD) の出生率とキャリア頻度を計算した. 結果は,LSDの罹患率は10万人に0.43で,MPSIIとファブリー病は顕著である.

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