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Updated: Aug 6, 2026

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
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リソソーム貯蔵障害の有病率

P J Meikle1, J J Hopwood, A E Clague

  • 1Department of Chemical Pathology, Women's and Children's Hospital, Adelaide, Australia. p.meikle@medicine.adelaide.edu.au

JAMA
|January 26, 1999
PubMed
まとめ

ライソソーム貯蔵障害は個別にまれですが,集団として一般的であり,オーストラリアの出生7700人に1人に影響します. この研究は,それらの集団的流行を定義し,重要な公衆衛生問題を強調しています.

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