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Updated: Jul 21, 2025

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鉴定与果糖1,6-双酸酶缺乏相关的基因型-生化现象型相关性

Ikki Sakuma1, Hidekazu Nagano1, Naoko Hashimoto1,2

  • 1Department of Molecular Diagnosis, Graduate School of Medicine Chiba University, Chiba, 260-8670, Japan.

Communications biology
|July 28, 2023
PubMed
概括

由FBP1突变引起的果糖-1,6-双酸酶缺乏导致低血糖乳酸性酸性疾病. 蛋白质错误折叠,特别是在2型突变中,是疾病发病的关键,表明潜在的陪伴者疗法.

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