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单词 Glycogen Storage Disease Type VII
释义

Glycogen Storage Disease Type VII


《英文msh词典》Glycogen Storage Disease Type VII
[主题词] Glycogen Storage Disease Type VII
[同义词] Glycogenosis 7
[同义词] Tarui Disease
[入口词] Deficiency,Muscle Phosphofructokinase
[入口词] Muscle Phosphofructokinase Deficiency
[入口词] Tarui's Disease
[入口词] Deficiencies,Muscle Phosphofructokinase
[入口词] Disease,Tarui
[入口词] Disease,Tarui's
[入口词] Muscle Phosphofructokinase Deficiencies
[入口词] Phosphofructokinase Deficiencies,Muscle
[入口词] Phosphofructokinase Deficiency,Muscle
[入口词] Taruis Disease
[中文释义] 糖原贮积病Ⅶ型
[英文释义] 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.
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