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Updated: Sep 9, 2025

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

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马来西亚的溶酶体储存疾病 (LSD) 的流行

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
概括

这项研究计算了马来西亚 lysosomal储存障碍 (LSD) 的出生率和携带者频率. 结果显示每10万活产婴儿中LSD患病率为0.43,其中MPSII和Fabry病是值得注意的.

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