SCN8A

Daniyeh Khurram1, Kristyna Kupkova2, Larry D Mesner2

  • 1Division of Metabolism, Endocrinology & Diabetes, Department of Internal Medicine, University of Michigan School of Medicine, Ann Arbor, MI 48109, USA.

JCEM case reports
|November 21, 2025
PubMed
概括

在SCN8A基因中的遗传变异导致患者的骨特异性性酸酶和骨疼痛升高. 用阿伦德罗纳酸治疗改善了症状,降低了性酸酶水平.

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