Phosphofructokinase-deficiency网络磷酸果糖激酶缺乏症 网络释义 1. 磷酸果糖激酶缺乏症 磷酸果糖激酶缺乏症(Phosphofructokinase deficiency)为常染色体隐性遗传,其临床表现与Ⅴ型糖原累积病相似。 【病因与 …medicaldb.haoyisheng.com|基于4个网页© 2025 Microsoft 隐私声明和 Cookie 法律声明 广告 帮助 反馈...
Phosphofructokinase deficiency, also known as Glycogen storage disease type VII or Tarui's disease[1], is a metabolic disorder with autosomal recessive inheritance, in which deficiency of the M subunit of the phosphofructokinase enzyme impairs the ability of cells such as erythrocytes and rhabdomyocytes...
A case of M-type PFK deficiency due to the synthesis of a structurally abnormal and catalytically inactive M-subunit was reported. PFK activity was reduced (39% of normal) in red cells, normal in leukocytes and platelets, and absent in muscle. The red cell enzyme was not inhibited by ...
deficiency of phosphofructokinase 英[diˈfiʃənsi ɔv ˌfɔsfəˌfrʌktəˈkineis] 美[dɪˈfɪʃənsi ʌv ˌfɑsfoˌfrʌktoˈkaɪnes] 释义 磷酸果糖激酶缺乏
HNSHA due to phosphofructokinase deficiency 专业医学词典 HNSHA由于磷酸果糖激酶缺乏 与"HNSHA due to phosphofructokinase deficiency"相近的词条 ... HNSHA due to hexokinase deficiency HNSHA due to increased adenosine deaminase activity HNSHA due to NADH diaphorase deficiency HNSHA due to NADH-methemoglobi...
Muscle type phosphofructokinase (M-PFK) deficiency is a rare inherited glycogen storage disease in humans that causes exertional myopathy and hemolysis. The molecular basis of canine M-PFK deficiency, the only naturally occurring animal homologue, was investigated. Lack of M-PFK enzyme activity was ...
Article: Hemolysis, myopathy, and cardiac disease associated with hereditary phosphofructokinase deficiency in two Whippets
doi:10.1007/978-1-4020-6754-9_12735A phospho-fructokinase in the muscles (PFKM). It deficiency may cause muscle cramps and myoglobinuria. Lactate production is reduced and fatigue develops after exertion. glycogen storage diseases, myoglobin...Springer Netherlands...
et al. Phosphofructokinase deficiency in skeletal muscle. A new type of glycogenosis. Biochem. Biophys. Res. Commun. 19, 517–523 (1965). 33. Aguirre-Ghiso, J. A. Models, mechanisms and clinical evidence for cancer dormancy. Nat. Rev. Cancer 7, 834–846 (2007). 34. Ramanathan, B. ...