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Interface in English. Medical references retain their original language; bilingual names and selected translations are provided.

中英关联术语

磷酸果糖激酶缺乏症

Glycogen Storage Disease Type VII

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An autosomal recessive glycogen storage disease in which there is deficient expression of 6-phosphofructose 1-kinase in muscle (PHOSPHOFRUCTOKINASE-1, MUSCLE TYPE) resulting in abnormal deposition of glycogen in muscle tissue. These patients have severe congenital muscular dystrophy and are exercise intolerant.

中文名称索引;定义为 MeSH 英文原文,尚未逐条译审。MESH:D006014 · MeSH 2026。

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