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Updated: Jan 14, 2026

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
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溶酶体储存障碍 (LSD) 的自然历史映射:高希氏病作为精密护理模型

Noor Ul Ain1, Maya Vaishnaw2, Pramod K Mistry3

  • 1Department of Internal Medicine, Yale School of Medicine, New Haven, Connecticut, USA.

Journal of inherited metabolic disease
|January 13, 2026
PubMed
概括

通过深度表型和先进分析增强的自然历史数据,对于开发罕见疾病治疗非常重要. 氏病为将注册表转化为精准医学预测工具提供了一个模型.

关键词:
戈舍氏病是戈舍氏病的一种疾病.溶酶体储存障碍 溶酶体储存障碍多态疾病建模多态疾病建模自然历史研究是自然历史的研究.

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