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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